#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
ABCA3	21	genome.wustl.edu	37	16	2345722	2345722	+	Silent	SNP	C	C	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr16:2345722C>T	ENST00000301732.5	-	18	2983	c.2283G>A	c.(2281-2283)acG>acA	p.T761T	ABCA3_ENST00000382381.3_Silent_p.T703T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	761	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCTTCACCAGCGTCATGTGAT	0.637																																						dbGAP											0													82.0	81.0	82.0					16																	2345722		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2283G>A	16.37:g.2345722C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T761	ENST00000301732.5	37	c.2283	CCDS10466.1	16																																																																																			ABCA3	-	pfscan_ABC_transporter-like	ENSG00000167972		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	29	0.00	0	C	NM_001089		2345722	2345722	-1	no_errors	ENST00000301732	ensembl	human	known	69_37n	silent	25	21.88	7	SNP	0.121	T
CROCC	9696	genome.wustl.edu	37	1	17273292	17273292	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr1:17273292C>T	ENST00000375541.5	+	17	2389	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGGCCGGCAACGGCAGGCAGA	0.701																																						dbGAP											0													14.0	14.0	14.0					1																	17273292		2091	4141	6232	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2320C>T	1.37:g.17273292C>T	ENSP00000364691:p.Arg774Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R774W	ENST00000375541.5	37	c.2320	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663246	0.29515	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10960	2.82	3.5	3.5	0.40072	.	.	.	.	.	T	0.15955	0.0384	L	0.27053	0.805	0.33825	D	0.629479	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.56474	0.736;0.799;0.799	T	0.16928	-1.0386	9	0.72032	D	0.01	.	13.3254	0.60457	0.0:1.0:0.0:0.0	.	637;77;774	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	W	774;655	ENSP00000364691:R774W	ENSP00000364691:R774W	R	+	1	2	CROCC	17145879	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	1.959000	0.40412	2.248000	0.74166	0.462000	0.41574	CGG	CROCC	-	NULL	ENSG00000058453		0.701	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	12	0.00	0	C	NM_014675		17273292	17273292	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40383905	40383905	+	Silent	SNP	G	G	A	rs145218790		TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr19:40383905G>A	ENST00000221347.6	-	21	9712	c.9705C>T	c.(9703-9705)tgC>tgT	p.C3235C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3235						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)			CCCCAGGCCCGCAGCGACACC	0.677																																						dbGAP											0													1.0	1.0	1.0					19																	40383905		234	700	934	-	-	-	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.9705C>T	19.37:g.40383905G>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.C3235	ENST00000221347.6	37	c.9705	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out	ENSG00000090920		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	24	0.00	0	G	NM_003890		40383905	40383905	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	14	30.00	6	SNP	0.488	A
GOLGB1	2804	genome.wustl.edu	37	3	121416508	121416508	+	Silent	SNP	C	C	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr3:121416508C>T	ENST00000340645.5	-	13	2972	c.2847G>A	c.(2845-2847)gtG>gtA	p.V949V	GOLGB1_ENST00000393667.3_Silent_p.V954V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	949					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)		TATCTTCTTCCACCTGCTCTT	0.363																																						dbGAP											0													84.0	91.0	89.0					3																	121416508		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	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.2847G>A	3.37:g.121416508C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	NULL	p.W820*	ENST00000340645.5	37	c.2459	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.331145	0.00227	.	.	ENSG00000173230	ENST00000489400	.	.	.	4.98	-4.51	0.03483	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5354	0.22350	0.2036:0.2233:0.0:0.5731	.	.	.	.	X	820	.	.	W	-	2	0	GOLGB1	122899198	0.000000	0.05858	0.009000	0.14445	0.177000	0.22998	-0.833000	0.04396	-1.514000	0.01786	-1.814000	0.00607	TGG	GOLGB1	-	NULL	ENSG00000173230		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	49	0.00	0	C	NM_004487		121416508	121416508	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000489400	ensembl	human	novel	69_37n	nonsense	35	44.44	28	SNP	0.000	T
MBNL2	10150	genome.wustl.edu	37	13	97999169	97999169	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr13:97999169T>A	ENST00000376673.3	+	5	1433	c.652T>A	c.(652-654)Tgt>Agt	p.C218S	MBNL2_ENST00000345429.6_Missense_Mutation_p.C218S|MBNL2_ENST00000397601.1_Missense_Mutation_p.C218S|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.C218S			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	218					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|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)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CGTAACCGTTTGTATGGATTA	0.532																																						dbGAP											0													90.0	87.0	88.0					13																	97999169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.652T>A	13.37:g.97999169T>A	ENSP00000365861:p.Cys218Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.C218S	ENST00000376673.3	37	c.652		13	.	.	.	.	.	.	.	.	.	.	T	31	5.100306	0.94245	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000345429;ENST00000376673	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.86	5.86	0.93980	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	0.998;0.972;1.0	D;P;D	0.91635	0.954;0.632;0.999	T	0.77219	-0.2668	10	0.87932	D	0	.	16.2612	0.82547	0.0:0.0:0.0:1.0	.	218;218;218	Q5VZF2;A2A3S3;Q5VZF2-2	MBNL2_HUMAN;.;.	S	218	ENSP00000380726:C218S;ENSP00000344214:C218S;ENSP00000267287:C218S;ENSP00000365861:C218S	ENSP00000344214:C218S	C	+	1	0	MBNL2	96797170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.307000	0.72815	2.244000	0.73946	0.477000	0.44152	TGT	MBNL2	-	smart_Znf_CCCH	ENSG00000139793		0.532	MBNL2-202	KNOWN	basic	protein_coding	MBNL2	HGNC	protein_coding		29	0.00	0	T	NM_144778		97999169	97999169	+1	no_errors	ENST00000376673	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	1.000	A
NFYC	4802	genome.wustl.edu	37	1	41220041	41220041	+	Intron	DEL	A	A	-			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr1:41220041delA	ENST00000308733.5	+	4	393				NFYC_ENST00000372651.1_Intron|NFYC_ENST00000372654.1_Intron|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000440226.3_Intron|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Intron|NFYC_ENST00000447388.3_Intron|NFYC_ENST00000456393.2_Intron|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000372653.1_Intron|NFYC_ENST00000427410.2_Intron			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AGTCTTTGCTACTGTAAACAT	0.552																																						dbGAP											0													125.0	113.0	117.0					1																	41220041		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.387+1123A>-	1.37:g.41220041delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	RNA	DEL	-	NULL	ENST00000308733.5	37	NULL		1																																																																																			MIR30E	-	-	ENSG00000198974		0.552	NFYC-007	KNOWN	basic	protein_coding	MIR30E	HGNC	protein_coding	OTTHUMT00000020802.1	36	0.00	0	A	NM_014223		41220041	41220041	+1	no_errors	ENST00000362104	ensembl	human	known	69_37n	rna	31	26.19	11	DEL	0.999	-
NFYC	4802	genome.wustl.edu	37	1	41220042	41220042	+	Intron	SNP	C	C	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr1:41220042C>T	ENST00000308733.5	+	4	393				NFYC_ENST00000372651.1_Intron|NFYC_ENST00000372654.1_Intron|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000440226.3_Intron|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Intron|NFYC_ENST00000447388.3_Intron|NFYC_ENST00000456393.2_Intron|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000372653.1_Intron|NFYC_ENST00000427410.2_Intron			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTCTTTGCTACTGTAAACATC	0.552																																						dbGAP											0													124.0	113.0	116.0					1																	41220042		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.387+1124C>T	1.37:g.41220042C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	RNA	SNP	-	NULL	ENST00000308733.5	37	NULL		1																																																																																			MIR30E	-	-	ENSG00000198974		0.552	NFYC-007	KNOWN	basic	protein_coding	MIR30E	HGNC	protein_coding	OTTHUMT00000020802.1	36	0.00	0	C	NM_014223		41220042	41220042	+1	no_errors	ENST00000362104	ensembl	human	known	69_37n	rna	30	26.83	11	SNP	1.000	T
MRE11A	4361	genome.wustl.edu	37	11	94209462	94209462	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr11:94209462G>T	ENST00000323929.3	-	7	874	c.652C>A	c.(652-654)Cag>Aag	p.Q218K	MRE11A_ENST00000540013.1_Missense_Mutation_p.Q218K|MRE11A_ENST00000393241.4_Missense_Mutation_p.Q218K|MRE11A_ENST00000407439.3_Missense_Mutation_p.Q221K|RP11-685N10.1_ENST00000541092.1_RNA|MRE11A_ENST00000323977.3_Missense_Mutation_p.Q218K	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	218					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|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)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TACCTGTTCTGATGAATCACA	0.358								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											0													91.0	87.0	88.0					11																	94209462		2201	4297	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.652C>A	11.37:g.94209462G>T	ENSP00000325863:p.Gln218Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.Q218K	ENST00000323929.3	37	c.652	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963572	0.92791	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.32	5.32	0.75619	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.94683	0.8285	M	0.93375	3.41	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	0.95642	0.8699	10	0.87932	D	0	-12.4323	19.3554	0.94410	0.0:0.0:1.0:0.0	.	221;218;218	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	K	218;221;218;218;218	ENSP00000325863:Q218K;ENSP00000385614:Q221K;ENSP00000326094:Q218K;ENSP00000376933:Q218K;ENSP00000440986:Q218K	ENSP00000325863:Q218K	Q	-	1	0	MRE11A	93849110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.018000	0.93657	2.644000	0.89710	0.585000	0.79938	CAG	MRE11A	-	pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	ENSG00000020922		0.358	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	59	0.00	0	G	NM_005591		94209462	94209462	-1	no_errors	ENST00000323929	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	1.000	T
NTHL1	4913	genome.wustl.edu	37	16	2093638	2093638	+	Silent	SNP	C	C	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr16:2093638C>T	ENST00000219066.1	-	4	657	c.639G>A	c.(637-639)gcG>gcA	p.A213A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1			nth endonuclease III-like 1 (E. coli)											lung(1)	1						CACCCGGCAGCGCCACCAGCT	0.627								Base excision repair (BER), DNA glycosylases																														dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			U81285	CCDS10457.1	16p13.3	2008-02-05	2001-11-28		ENSG00000065057	ENSG00000065057			8028	protein-coding gene	gene with protein product		602656	"""nth (E.coli endonuclease III)-like 1"""			9045706, 8990169	Standard	NM_002528		Approved	NTH1, OCTS3	uc002col.1	P78549	OTTHUMG00000128744	ENST00000219066.1:c.639G>A	16.37:g.2093638C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain	p.A179T	ENST00000219066.1	37	c.535	CCDS10457.1	16																																																																																			NTHL1	-	pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain	ENSG00000065057		0.627	NTHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250656.1	13	0.00	0	C	NM_002528		2093638	2093638	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561841	ensembl	human	known	69_37n	missense	13	50.00	13	SNP	0.191	T
PHLDB3	653583	genome.wustl.edu	37	19	44008076	44008076	+	Silent	SNP	A	A	G			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr19:44008076A>G	ENST00000292140.5	-	2	555	c.195T>C	c.(193-195)acT>acC	p.T65T	PHLDB3_ENST00000599242.1_Silent_p.T65T	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	65							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGCTGCTCTCAGTGCTGCTGC	0.677																																						dbGAP											0													46.0	46.0	46.0					19																	44008076		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.195T>C	19.37:g.44008076A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7Z4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T65	ENST00000292140.5	37	c.195	CCDS12621.2	19																																																																																			PHLDB3	-	NULL	ENSG00000176531		0.677	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	25	0.00	0	A			44008076	44008076	-1	no_errors	ENST00000292140	ensembl	human	known	69_37n	silent	14	26.32	5	SNP	0.308	G
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	60	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	45	42.31	33	SNP	1.000	A
PIK3R1	5295	genome.wustl.edu	37	5	67590467	67590467	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr5:67590467A>T	ENST00000521381.1	+	12	2145	c.1529A>T	c.(1528-1530)gAa>gTa	p.E510V	PIK3R1_ENST00000320694.8_Missense_Mutation_p.E210V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.E240V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.E510V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.E510V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.E147V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.E510V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	510					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.K511fs*2(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)	GAATACATAGAAAAGTTTAAA	0.348			"""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"""	3	Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(1)|lung(1)|endometrium(1)											70.0	72.0	71.0					5																	67590467		2203	4300	6503	-	-	-	SO:0001583	missense	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.1529A>T	5.37:g.67590467A>T	ENSP00000428056:p.Glu510Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_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.E510V	ENST00000521381.1	37	c.1529	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055490	0.75960	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;D;T;D	0.82984	-0.62;-0.62;-0.52;-0.62;-1.59;-1.6;0.15;-1.67	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	M	0.76574	2.34	0.80722	D	1	B;P;P;P	0.52577	0.111;0.644;0.494;0.954	B;B;P;P	0.58721	0.117;0.386;0.485;0.844	D	0.90458	0.4444	10	0.72032	D	0.01	-26.7526	15.4962	0.75653	1.0:0.0:0.0:0.0	.	180;240;210;510	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	V	510;510;510;510;210;240;183;147	ENSP00000428056:E510V;ENSP00000429277:E510V;ENSP00000379855:E510V;ENSP00000274335:E510V;ENSP00000323512:E210V;ENSP00000338554:E240V;ENSP00000429156:E183V;ENSP00000430098:E147V	ENSP00000274335:E510V	E	+	2	0	PIK3R1	67626223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.307000	0.77673	0.528000	0.53228	GAA	PIK3R1	-	superfamily_Guanylate-bd_C,prints_PI3kinase_P85	ENSG00000145675		0.348	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	41	0.00	0	A	NM_181504		67590467	67590467	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	1.000	T
PLK3	1263	genome.wustl.edu	37	1	45270401	45270401	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr1:45270401C>A	ENST00000372201.4	+	13	1824	c.1585C>A	c.(1585-1587)Ctg>Atg	p.L529M	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	529	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCAGCCTCAGCTGGGTATCCT	0.597																																						dbGAP											0													142.0	146.0	145.0					1																	45270401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1585C>A	1.37:g.45270401C>A	ENSP00000361275:p.Leu529Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15767|Q5JR99|Q96CV1	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.L529M	ENST00000372201.4	37	c.1585	CCDS515.1	1	.	.	.	.	.	.	.	.	.	.	c	12.90	2.075237	0.36662	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.17854	2.25	5.29	3.28	0.37604	POLO box duplicated domain (2);	.	.	.	.	T	0.10423	0.0255	N	0.11756	0.17	0.34022	D	0.652765	P	0.42871	0.792	P	0.46419	0.516	T	0.27297	-1.0078	9	0.17832	T	0.49	-10.677	4.7078	0.12858	0.2577:0.5543:0.0:0.188	.	529	Q9H4B4	PLK3_HUMAN	M	529;504	ENSP00000361275:L529M	ENSP00000361275:L529M	L	+	1	2	PLK3	45042988	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	0.449000	0.21744	0.620000	0.30215	0.639000	0.83563	CTG	PLK3	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom	ENSG00000173846		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	29	0.00	0	C	NM_004073		45270401	45270401	+1	no_errors	ENST00000372201	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	A
PLD5	200150	genome.wustl.edu	37	1	242383361	242383361	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr1:242383361A>G	ENST00000536534.2	-	5	905	c.664T>C	c.(664-666)Tcc>Ccc	p.S222P	PLD5_ENST00000442594.2_Missense_Mutation_p.S130P|PLD5_ENST00000427495.1_Missense_Mutation_p.S160P			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	222	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATCCAGAAGGAGGACTGCAGC	0.537																																						dbGAP											0													138.0	121.0	127.0					1																	242383361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.664T>C	1.37:g.242383361A>G	ENSP00000440896:p.Ser222Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.S222P	ENST00000536534.2	37	c.664	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563050	0.86335	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13657	2.57;2.57;2.57	5.52	5.52	0.82312	Phospholipase D/Transphosphatidylase (1);	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	M	0.62723	1.935	0.51482	D	0.999923	D;D;D	0.89917	1.0;0.999;0.996	D;P;D	0.70716	0.97;0.889;0.919	T	0.03555	-1.1025	10	0.87932	D	0	-12.2224	12.0198	0.53337	1.0:0.0:0.0:0.0	.	130;222;160	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	P	160;130;222	ENSP00000401285:S160P;ENSP00000414188:S130P;ENSP00000440896:S222P	ENSP00000401285:S160P	S	-	1	0	PLD5	240449984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.884000	0.69729	2.093000	0.63338	0.533000	0.62120	TCC	PLD5	-	smart_PLipase_D/transphosphatidylase	ENSG00000180287		0.537	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	36	0.00	0	A	NM_152666		242383361	242383361	-1	no_errors	ENST00000536534	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	G
SLC25A36	55186	genome.wustl.edu	37	3	140675496	140675496	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr3:140675496A>G	ENST00000324194.6	+	2	337	c.169A>G	c.(169-171)Aac>Gac	p.N57D	SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000507429.1_Missense_Mutation_p.N57D|SLC25A36_ENST00000446041.2_Missense_Mutation_p.N57D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.N57D			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	57					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGCCAGTGTCAACCGAGTAGT	0.443																																						dbGAP											0													140.0	135.0	136.0					3																	140675496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.169A>G	3.37:g.140675496A>G	ENSP00000320688:p.Asn57Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.N57D	ENST00000324194.6	37	c.169	CCDS46927.1	3	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802190	0.50315	.	.	ENSG00000114120	ENST00000446041;ENST00000507429;ENST00000324194;ENST00000453248;ENST00000513887	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.29	4.13	0.48395	Mitochondrial carrier domain (2);	0.204218	0.50627	D	0.000111	T	0.64427	0.2597	L	0.33137	0.985	0.36195	D	0.850363	B;B;B;B	0.23185	0.037;0.062;0.081;0.072	B;B;B;B	0.29440	0.102;0.062;0.061;0.062	T	0.60821	-0.7187	10	0.11794	T	0.64	-9.3302	8.851	0.35199	0.9108:0.0:0.0892:0.0	.	57;57;57;57	B4DL01;Q96CQ1-3;Q96CQ1;F6SDC8	.;.;S2536_HUMAN;.	D	57;57;57;57;7	ENSP00000401938:N57D;ENSP00000421470:N57D;ENSP00000320688:N57D;ENSP00000391521:N57D	ENSP00000320688:N57D	N	+	1	0	SLC25A36	142158186	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.407000	0.59754	2.131000	0.65755	0.528000	0.53228	AAC	SLC25A36	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000114120		0.443	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	51	0.00	0	A	NM_018155		140675496	140675496	+1	no_errors	ENST00000324194	ensembl	human	known	69_37n	missense	24	41.86	18	SNP	1.000	G
SLC35B2	347734	genome.wustl.edu	37	6	44224107	44224107	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr6:44224107delT	ENST00000393812.3	-	3	475	c.332delA	c.(331-333)aagfs	p.K111fs	SLC35B2_ENST00000538577.1_Intron|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	111					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGAGCAGCTTCAGGGCCTG	0.607																																						dbGAP											0													63.0	74.0	70.0					6																	44224107		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.332delA	6.37:g.44224107delT	ENSP00000377401:p.Lys111fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Frame_Shift_Del	DEL	pfam_UAA,pfam_DMT	p.K111fs	ENST00000393812.3	37	c.332	CCDS34462.1	6																																																																																			SLC35B2	-	NULL	ENSG00000157593		0.607	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	25	0.00	0	T			44224107	44224107	-1	no_errors	ENST00000393812	ensembl	human	known	69_37n	frame_shift_del	9	55.00	11	DEL	1.000	-
SLC35B2	347734	genome.wustl.edu	37	6	44224110	44224110	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr6:44224110A>T	ENST00000393812.3	-	3	472	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC35B2_ENST00000538577.1_Intron|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	110					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGCAGCTTCAGGGCCTGCCA	0.617																																						dbGAP											0													62.0	72.0	69.0					6																	44224110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.329T>A	6.37:g.44224110A>T	ENSP00000377401:p.Leu110Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.L110Q	ENST00000393812.3	37	c.329	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178399	0.78564	.	.	ENSG00000157593	ENST00000393812;ENST00000341553	T	0.36699	1.24	4.26	3.09	0.35607	.	0.158919	0.41712	D	0.000830	T	0.24509	0.0594	L	0.32530	0.975	0.80722	D	1	P	0.49090	0.919	P	0.52710	0.707	T	0.03587	-1.1022	10	0.62326	D	0.03	-24.0194	10.2033	0.43099	0.8514:0.0:0.0:0.1486	.	110	Q8TB61	S35B2_HUMAN	Q	110	ENSP00000377401:L110Q	ENSP00000342455:L110Q	L	-	2	0	SLC35B2	44332088	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.940000	0.70187	0.663000	0.31027	0.459000	0.35465	CTG	SLC35B2	-	NULL	ENSG00000157593		0.617	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	25	0.00	0	A			44224110	44224110	-1	no_errors	ENST00000393812	ensembl	human	known	69_37n	missense	10	54.55	12	SNP	1.000	T
SNTG2	54221	genome.wustl.edu	37	2	1094038	1094038	+	Splice_Site	SNP	G	G	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr2:1094038G>T	ENST00000308624.5	+	4	396		c.e4-1		SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2						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)		TTGTCTTTCAGGGAGGTTCTG	0.398																																						dbGAP											0													140.0	133.0	135.0					2																	1094038		1880	4101	5981	-	-	-	SO:0001630	splice_region_variant	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.268-1G>T	2.37:g.1094038G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05AH5	Splice_Site	SNP	-	e4-1	ENST00000308624.5	37	c.268-1	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198501	0.58126	.	.	ENSG00000172554	ENST00000308624	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8075	0.69968	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG2	1084038	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	7.431000	0.80335	1.967000	0.57214	0.563000	0.77884	.	SNTG2	-	-	ENSG00000172554		0.398	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	73	0.00	0	G	NM_018968	Intron	1094038	1094038	+1	no_errors	ENST00000308624	ensembl	human	known	69_37n	splice_site	50	34.21	26	SNP	1.000	T
TRIM2	23321	genome.wustl.edu	37	4	154191510	154191510	+	5'UTR	SNP	A	A	G			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr4:154191510A>G	ENST00000437508.2	+	0	174				TRIM2_ENST00000338700.5_Silent_p.T18T|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2						cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGTCAAAGACAGCCGGCCCCC	0.483																																						dbGAP											0													100.0	102.0	101.0					4																	154191510		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.-28A>G	4.37:g.154191510A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP09|O60272|Q9BSI9|Q9UFZ1	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.T18	ENST00000437508.2	37	c.54	CCDS47147.1	4																																																																																			TRIM2	-	NULL	ENSG00000109654		0.483	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	38	0.00	0	A			154191510	154191510	+1	no_errors	ENST00000338700	ensembl	human	known	69_37n	silent	21	44.74	17	SNP	0.998	G
TTC6	319089	genome.wustl.edu	37	14	38277943	38277943	+	Silent	SNP	T	T	C	rs577357532		TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr14:38277943T>C	ENST00000476979.1	+	6	650	c.363T>C	c.(361-363)taT>taC	p.Y121Y	TTC6_ENST00000553443.1_Silent_p.Y1487Y|TTC6_ENST00000267368.7_Silent_p.Y121Y|TTC6_ENST00000382320.3_Silent_p.Y201Y			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	121										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTTAGACTTATAAGCTAGCAA	0.274																																						dbGAP											0													91.0	97.0	95.0					14																	38277943		2199	4276	6475	-	-	-	SO:0001819	synonymous_variant	0			BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.363T>C	14.37:g.38277943T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY88|Q96CE6	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y218	ENST00000476979.1	37	c.654		14																																																																																			TTC6	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000139865		0.274	TTC6-002	KNOWN	basic	protein_coding	TTC6	HGNC	protein_coding	OTTHUMT00000348621.2	63	0.00	0	T	XM_002343299		38277943	38277943	+1	no_errors	ENST00000478811	ensembl	human	known	69_37n	silent	35	35.19	19	SNP	0.989	C
UBXN11	91544	genome.wustl.edu	37	1	26608885	26608885	+	Missense_Mutation	SNP	C	C	T	rs201454352	byFrequency	TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr1:26608885C>T	ENST00000374222.1	-	16	1932	c.1468G>A	c.(1468-1470)Ggt>Agt	p.G490S	UBXN11_ENST00000374223.1_Missense_Mutation_p.G247S|UBXN11_ENST00000374221.3_Missense_Mutation_p.G490S|UBXN11_ENST00000314675.7_Missense_Mutation_p.G370S|UBXN11_ENST00000357089.4_Missense_Mutation_p.G457S|UBXN11_ENST00000374217.2_Missense_Mutation_p.G457S			Q5T124	UBX11_HUMAN	UBX domain protein 11	490	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggccgggaccgggaccggga	0.711																																						dbGAP											1	Deletion - In frame(1)	ovary(1)											40.0	50.0	47.0					1																	26608885		1828	4053	5881	-	-	-	SO:0001583	missense	0			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1468G>A	1.37:g.26608885C>T	ENSP00000363339:p.Gly490Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.G490S	ENST00000374222.1	37	c.1468	CCDS41288.1	1	.	.	.	.	.	.	.	.	.	.	-	2.886	-0.230636	0.05983	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.22945	1.93;2.02;2.37;2.3;2.3;2.37	2.5	-2.32	0.06745	.	2.616560	0.01918	N	0.040283	T	0.06096	0.0158	N	0.00926	-1.1	0.09310	N	0.999997	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28004	-1.0057	10	0.02654	T	1	.	0.4862	0.00556	0.1926:0.2649:0.1644:0.378	.	457;452;370;490	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	S	370;247;457;490;490;457	ENSP00000324721:G370S;ENSP00000363340:G247S;ENSP00000349601:G457S;ENSP00000363338:G490S;ENSP00000363339:G490S;ENSP00000363334:G457S	ENSP00000324721:G370S	G	-	1	0	UBXN11	26481472	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-1.097000	0.03349	-0.363000	0.08101	0.472000	0.43445	GGT	UBXN11	-	NULL	ENSG00000158062		0.711	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	9	0.00	0	C	NM_145345		26608885	26608885	-1	no_errors	ENST00000374221	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.000	T
UBXN11	91544	genome.wustl.edu	37	1	26608889	26608889	+	Silent	SNP	A	A	T	rs376181141|rs202239787	byFrequency	TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr1:26608889A>T	ENST00000374222.1	-	16	1928	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	UBXN11_ENST00000374223.1_Silent_p.G245G|UBXN11_ENST00000374221.3_Silent_p.G488G|UBXN11_ENST00000314675.7_Silent_p.G368G|UBXN11_ENST00000357089.4_Silent_p.G455G|UBXN11_ENST00000374217.2_Silent_p.G455G			Q5T124	UBX11_HUMAN	UBX domain protein 11	488	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing.|Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						cgggaccgggaccgggacagg	0.711																																						dbGAP											1	Deletion - In frame(1)	ovary(1)											45.0	56.0	53.0					1																	26608889		1844	4065	5909	-	-	-	SO:0001819	synonymous_variant	0			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1464T>A	1.37:g.26608889A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.G488	ENST00000374222.1	37	c.1464	CCDS41288.1	1																																																																																			UBXN11	-	NULL	ENSG00000158062		0.711	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	11	0.00	0	A	NM_145345		26608889	26608889	-1	no_errors	ENST00000374221	ensembl	human	known	69_37n	silent	7	41.67	5	SNP	0.001	T
UTP3	57050	genome.wustl.edu	37	4	71555017	71555017	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr4:71555017C>T	ENST00000254803.2	+	1	822	c.623C>T	c.(622-624)gCt>gTt	p.A208V		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	208					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAGGATTTGGCTAAAGTTTCA	0.478																																						dbGAP											0													71.0	71.0	71.0					4																	71555017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.623C>T	4.37:g.71555017C>T	ENSP00000254803:p.Ala208Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI82	Missense_Mutation	SNP	pfam_Sas10_C,pfam_Sas10/Utp3/C1D	p.A208V	ENST00000254803.2	37	c.623	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795768	0.50208	.	.	ENSG00000132467	ENST00000254803	T	0.30981	1.51	5.44	4.56	0.56223	.	0.522971	0.21511	N	0.073371	T	0.26304	0.0642	L	0.40543	1.245	0.33246	D	0.557824	B	0.22800	0.075	B	0.21546	0.035	T	0.24512	-1.0158	10	0.34782	T	0.22	-4.5448	13.1182	0.59311	0.3507:0.6493:0.0:0.0	.	208	Q9NQZ2	SAS10_HUMAN	V	208	ENSP00000254803:A208V	ENSP00000254803:A208V	A	+	2	0	UTP3	71773881	0.996000	0.38824	0.997000	0.53966	0.927000	0.56198	2.905000	0.48727	2.542000	0.85734	0.603000	0.83216	GCT	UTP3	-	NULL	ENSG00000132467		0.478	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	35	0.00	0	C	NM_020368		71555017	71555017	+1	no_errors	ENST00000254803	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	0.746	T
ZNF622	90441	genome.wustl.edu	37	5	16463793	16463793	+	Silent	SNP	G	G	A			TCGA-AR-A24M-01A-11D-A167-09	TCGA-AR-A24M-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	722a8960-3a69-4f66-b972-74e6de94a1e8	89946989-b650-4ddd-86dc-b6e459588d38	g.chr5:16463793G>A	ENST00000308683.2	-	2	810	c.684C>T	c.(682-684)gaC>gaT	p.D228D		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	228	Glu-rich.				intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCACCACATCGTCCATTGCTT	0.443																																						dbGAP											0													211.0	218.0	216.0					5																	16463793		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.684C>T	5.37:g.16463793G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.D228	ENST00000308683.2	37	c.684	CCDS3886.1	5																																																																																			ZNF622	-	NULL	ENSG00000173545		0.443	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF622	HGNC	protein_coding	OTTHUMT00000207105.1	57	0.00	0	G	NM_033414		16463793	16463793	-1	no_errors	ENST00000308683	ensembl	human	known	69_37n	silent	40	29.82	17	SNP	0.000	A
