#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
ABL2	27	genome.wustl.edu	37	1	179079445	179079445	+	Silent	SNP	T	T	A	rs368346174		TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr1:179079445T>A	ENST00000502732.1	-	11	2000	c.1797A>T	c.(1795-1797)acA>acT	p.T599T	ABL2_ENST00000511413.1_Silent_p.T599T|ABL2_ENST00000408940.3_Silent_p.T563T|ABL2_ENST00000504405.1_Silent_p.T563T|ABL2_ENST00000512653.1_Silent_p.T584T|ABL2_ENST00000507173.1_Silent_p.T578T|ABL2_ENST00000367623.4_Silent_p.T578T|ABL2_ENST00000344730.3_Silent_p.T584T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	599					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.T599T(1)|p.T563T(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CAGAATTTTCTGTGGCATCTT	0.468			T	ETV6	AML																																	dbGAP		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	2	Substitution - coding silent(2)	breast(2)											267.0	262.0	264.0					1																	179079445		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1797A>T	1.37:g.179079445T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.T599	ENST00000502732.1	37	c.1797	CCDS30947.1	1																																																																																			ABL2	-	NULL	ENSG00000143322		0.468	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABL2	HGNC	protein_coding	OTTHUMT00000085174.3	202	0.00	0	T	NM_005158		179079445	179079445	-1	no_errors	ENST00000502732	ensembl	human	known	69_37n	silent	419	15.35	76	SNP	0.739	A
ANKRD27	84079	genome.wustl.edu	37	19	33095253	33095253	+	Silent	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr19:33095253G>A	ENST00000306065.4	-	25	2729	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	857					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)	p.F857F(1)		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)					GCTCTACCACGAAGACGTGCT	0.557																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											75.0	56.0	62.0					19																	33095253		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2571C>T	19.37:g.33095253G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	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.F857	ENST00000306065.4	37	c.2571	CCDS32986.1	19																																																																																			ANKRD27	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000105186		0.557	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	11	0.00	0	G	NM_032139		33095253	33095253	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	silent	48	18.64	11	SNP	0.015	A
ARHGEF25	115557	genome.wustl.edu	37	12	58008164	58008164	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr12:58008164C>T	ENST00000286494.4	+	7	1167	c.707C>T	c.(706-708)gCt>gTt	p.A236V	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.A275V|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	236	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A236V(1)|p.A275V(1)		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						GATTGGCTGGCTCAGCTATTC	0.552																																						dbGAP											2	Substitution - Missense(2)	breast(2)											70.0	76.0	74.0					12																	58008164		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.707C>T	12.37:g.58008164C>T	ENSP00000286494:p.Ala236Val	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.A275V	ENST00000286494.4	37	c.824	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	c	36	5.760470	0.96906	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.69435	-0.4;-0.4	4.96	4.96	0.65561	Dbl homology (DH) domain (5);	0.000000	0.37761	N	0.001946	T	0.81856	0.4911	M	0.78916	2.43	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	P;P;D	0.70016	0.76;0.9;0.967	D	0.84374	0.0545	10	0.72032	D	0.01	.	17.371	0.87377	0.0:1.0:0.0:0.0	.	275;236;110	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	V	275;110;236	ENSP00000335560:A275V;ENSP00000286494:A236V	ENSP00000286494:A236V	A	+	2	0	ARHGEF25	56294431	0.961000	0.32948	1.000000	0.80357	0.990000	0.78478	2.132000	0.42083	2.468000	0.83385	0.563000	0.77884	GCT	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	72	0.00	0	C	NM_133483		58008164	58008164	+1	no_errors	ENST00000333972	ensembl	human	known	69_37n	missense	88	16.67	19	SNP	1.000	T
ATP2B3	492	genome.wustl.edu	37	X	152827663	152827663	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chrX:152827663G>A	ENST00000349466.2	+	19	3448	c.3122G>A	c.(3121-3123)tGc>tAc	p.C1041Y	ATP2B3_ENST00000359149.3_Missense_Mutation_p.C1041Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C1041Y|ATP2B3_ENST00000370186.1_Missense_Mutation_p.C1027Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C1027Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C1027Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1041					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)	p.C1041Y(3)|p.C1027Y(1)		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)					TGGCTCTGGTGCCTGTTTGTT	0.592																																						dbGAP											4	Substitution - Missense(4)	breast(4)											163.0	132.0	142.0					X																	152827663		2203	4300	6503	-	-	-	SO:0001583	missense	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.3122G>A	X.37:g.152827663G>A	ENSP00000343886:p.Cys1041Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	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.C1041Y	ENST00000349466.2	37	c.3122	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495003	0.85069	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	4.91	4.91	0.64330	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.994;0.975	D	0.99764	1.1022	10	0.87932	D	0	-14.508	16.1073	0.81234	0.0:0.0:1.0:0.0	.	1027;1041;1041	Q16720-3;Q16720;Q16720-2	.;AT2B3_HUMAN;.	Y	1027;1041;1027;1041;1041;1027	ENSP00000359205:C1027Y;ENSP00000343886:C1041Y;ENSP00000377425:C1027Y;ENSP00000352062:C1041Y;ENSP00000263519:C1041Y;ENSP00000359200:C1027Y	ENSP00000263519:C1041Y	C	+	2	0	ATP2B3	152480857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.053000	0.61076	0.529000	0.55759	TGC	ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000067842		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	42	0.00	0	G	NM_021949		152827663	152827663	+1	no_errors	ENST00000263519	ensembl	human	known	69_37n	missense	71	26.80	26	SNP	1.000	A
BIRC8	112401	genome.wustl.edu	37	19	53793146	53793146	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr19:53793146G>A	ENST00000426466.1	-	1	1729	c.482C>T	c.(481-483)aCa>aTa	p.T161I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	161					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.T161I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTCATTTTCTGTAGTGTCTTT	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	95.0	95.0					19																	53793146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.482C>T	19.37:g.53793146G>A	ENSP00000412957:p.Thr161Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.T161I	ENST00000426466.1	37	c.482	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.160881	0.01673	.	.	ENSG00000163098	ENST00000426466	T	0.37058	1.22	0.637	-1.27	0.09347	.	.	.	.	.	T	0.21962	0.0529	L	0.39898	1.24	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.27297	-1.0078	9	0.30854	T	0.27	2.4294	0.325	0.00309	0.2132:0.2435:0.2994:0.2438	.	161	Q96P09	BIRC8_HUMAN	I	161	ENSP00000412957:T161I	ENSP00000412957:T161I	T	-	2	0	BIRC8	58484958	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.597000	0.05713	-1.505000	0.01807	-1.373000	0.01185	ACA	BIRC8	-	NULL	ENSG00000163098		0.418	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	141	0.00	0	G	NM_033341		53793146	53793146	-1	no_errors	ENST00000426466	ensembl	human	known	69_37n	missense	101	38.04	62	SNP	0.000	A
BMPR1B	658	genome.wustl.edu	37	4	96035920	96035920	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr4:96035920C>T	ENST00000515059.1	+	5	476	c.193C>T	c.(193-195)Cct>Tct	p.P65S	BMPR1B_ENST00000394931.1_Missense_Mutation_p.P65S|BMPR1B_ENST00000440890.2_Missense_Mutation_p.P95S|BMPR1B_ENST00000264568.4_Missense_Mutation_p.P65S|BMPR1B_ENST00000502683.1_Missense_Mutation_p.P65S	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	65					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)	p.P65S(2)		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)		CTCTGGGTTGCCTGTGGTCAC	0.438																																						dbGAP											2	Substitution - Missense(2)	breast(2)											334.0	308.0	317.0					4																	96035920		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.193C>T	4.37:g.96035920C>T	ENSP00000426617:p.Pro65Ser	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.P95S	ENST00000515059.1	37	c.283	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313137	0.10789	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000502683;ENST00000264568;ENST00000394931	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	5.82	4.98	0.66077	TGF-beta receptor/activin receptor, type I/II (1);	0.105809	0.64402	D	0.000004	D	0.95934	0.8676	M	0.65975	2.015	0.44012	D	0.996722	B	0.19445	0.036	B	0.29176	0.099	D	0.94426	0.7645	10	0.15499	T	0.54	.	16.7944	0.85598	0.1299:0.8701:0.0:0.0	.	65	O00238	BMR1B_HUMAN	S	65;65;65;65;95;65;65;65	ENSP00000426617:P65S;ENSP00000421144:P65S;ENSP00000425444:P65S;ENSP00000421671:P65S;ENSP00000401907:P95S;ENSP00000424693:P65S;ENSP00000264568:P65S;ENSP00000378389:P65S	ENSP00000264568:P65S	P	+	1	0	BMPR1B	96254943	1.000000	0.71417	0.895000	0.35142	0.001000	0.01503	4.720000	0.61944	1.608000	0.50180	-0.182000	0.12963	CCT	BMPR1B	-	pfam_Activin_rcpt	ENSG00000138696		0.438	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	169	0.00	0	C	NM_001203		96035920	96035920	+1	no_errors	ENST00000440890	ensembl	human	known	69_37n	missense	151	43.66	117	SNP	0.914	T
C8orf86	389649	genome.wustl.edu	37	8	38385938	38385938	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr8:38385938C>T	ENST00000358138.1	-	1	242	c.218G>A	c.(217-219)aGa>aAa	p.R73K	C8orf86_ENST00000437935.2_Missense_Mutation_p.R73K	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	73								p.R73K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GATTTGCATTCTTGGCTCTTT	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											216.0	172.0	187.0					8																	38385938		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.218G>A	8.37:g.38385938C>T	ENSP00000350856:p.Arg73Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPB7	Missense_Mutation	SNP	NULL	p.R73K	ENST00000358138.1	37	c.218	CCDS6108.1	8	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548919	0.45383	.	.	ENSG00000196166	ENST00000358138;ENST00000437935	T;T	0.54866	0.6;0.55	4.45	4.45	0.53987	.	.	.	.	.	T	0.52948	0.1766	N	0.08118	0	0.25866	N	0.983763	D	0.76494	0.999	D	0.80764	0.994	T	0.51196	-0.8736	9	0.87932	D	0	.	12.7777	0.57457	0.0:1.0:0.0:0.0	.	73	Q6ZUL3	CH086_HUMAN	K	73	ENSP00000350856:R73K;ENSP00000389615:R73K	ENSP00000350856:R73K	R	-	2	0	C8orf86	38505095	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.811000	0.47986	2.480000	0.83734	0.655000	0.94253	AGA	C8orf86	-	NULL	ENSG00000196166		0.552	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf86	HGNC	protein_coding	OTTHUMT00000376668.1	134	0.00	0	C	NM_207412		38385938	38385938	-1	no_errors	ENST00000358138	ensembl	human	known	69_37n	missense	167	24.09	53	SNP	0.999	T
CMYA5	202333	genome.wustl.edu	37	5	79033448	79033448	+	Silent	SNP	T	T	C			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr5:79033448T>C	ENST00000446378.2	+	2	8891	c.8860T>C	c.(8860-8862)Ttg>Ctg	p.L2954L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2954					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)		p.L2954L(2)		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)		CTGTGAGATATTGAATATTCA	0.368																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											39.0	37.0	38.0					5																	79033448		1823	4074	5897	-	-	-	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.8860T>C	5.37:g.79033448T>C		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.L2954	ENST00000446378.2	37	c.8860	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	64	0.00	0	T	NM_153610		79033448	79033448	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	silent	40	40.30	27	SNP	0.551	C
CROCC	9696	genome.wustl.edu	37	1	17274957	17274957	+	Silent	SNP	T	T	C			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr1:17274957T>C	ENST00000375541.5	+	18	2715	c.2646T>C	c.(2644-2646)gcT>gcC	p.A882A	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A882A(1)		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)		CTGGCCTGGCTGTGCAGCTGG	0.716																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											11.0	11.0	11.0					1																	17274957		2134	4195	6329	-	-	-	SO:0001819	synonymous_variant	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.2646T>C	1.37:g.17274957T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.A882	ENST00000375541.5	37	c.2646	CCDS30616.1	1																																																																																			CROCC	-	NULL	ENSG00000058453		0.716	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	10	0.00	0	T	NM_014675		17274957	17274957	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	0.152	C
CYP2C19	1557	genome.wustl.edu	37	10	96535205	96535205	+	Silent	SNP	G	G	A	rs17882291	byFrequency	TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr10:96535205G>A	ENST00000371321.3	+	3	472	c.390G>A	c.(388-390)acG>acA	p.T130T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	130					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCCTCATGACGCTGCGGAATT	0.517																																						dbGAP											0													143.0	135.0	138.0					10																	96535205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.390G>A	10.37:g.96535205G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P33259|Q8WZB1|Q8WZB2|Q9UCD4	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.T130	ENST00000371321.3	37	c.390	CCDS7436.1	10																																																																																			CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000165841		0.517	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	183	0.00	0	G	NM_000769		96535205	96535205	+1	no_errors	ENST00000371321	ensembl	human	known	69_37n	silent	264	24.79	87	SNP	0.075	A
BRINP1	1620	genome.wustl.edu	37	9	121930072	121930072	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr9:121930072G>T	ENST00000265922.3	-	8	2037	c.1576C>A	c.(1576-1578)Ctc>Atc	p.L526I	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	526					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.L526I(1)									TTGAGAGTGAGGGACATGCGC	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											149.0	113.0	125.0					9																	121930072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1576C>A	9.37:g.121930072G>T	ENSP00000265922:p.Leu526Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.L526I	ENST00000265922.3	37	c.1576	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168352	0.78339	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.25414	1.8	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	M	0.61703	1.905	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.44605	-0.9317	10	0.87932	D	0	-21.8241	19.91	0.97023	0.0:0.0:1.0:0.0	.	526	O60477	DBC1_HUMAN	I	526	ENSP00000265922:L526I	ENSP00000265922:L526I	L	-	1	0	DBC1	120969893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.462000	0.73526	2.702000	0.92279	0.655000	0.94253	CTC	DBC1	-	NULL	ENSG00000078725		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	28	0.00	0	G	NM_014618		121930072	121930072	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	missense	70	21.35	19	SNP	1.000	T
DIDO1	11083	genome.wustl.edu	37	20	61512792	61512792	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr20:61512792C>T	ENST00000266070.4	-	16	4841	c.4516G>A	c.(4516-4518)Gcc>Acc	p.A1506T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1506T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1506					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)	p.A1506T(1)		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)					ACCCCGACGGCGGCCCTCTGC	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	91.0	91.0					20																	61512792		2203	4300	6503	-	-	-	SO:0001583	missense	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.4516G>A	20.37:g.61512792C>T	ENSP00000266070:p.Ala1506Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	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.A1506T	ENST00000266070.4	37	c.4516	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327584	0.81690	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.13657	2.57;2.57	5.8	4.86	0.63082	.	0.000000	0.42821	D	0.000654	T	0.27967	0.0689	M	0.78916	2.43	0.80722	D	1	D	0.67145	0.996	P	0.50708	0.648	T	0.07271	-1.0781	10	0.41790	T	0.15	-25.8462	14.8512	0.70297	0.0:0.9314:0.0:0.0686	.	1506	Q9BTC0	DIDO1_HUMAN	T	1506	ENSP00000266070:A1506T;ENSP00000378752:A1506T	ENSP00000266070:A1506T	A	-	1	0	DIDO1	60983237	1.000000	0.71417	0.055000	0.19348	0.294000	0.27393	5.850000	0.69473	1.456000	0.47831	0.655000	0.94253	GCC	DIDO1	-	NULL	ENSG00000101191		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	43	0.00	0	C	NM_080796		61512792	61512792	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	missense	81	13.68	13	SNP	0.995	T
DIEXF	27042	genome.wustl.edu	37	1	210016796	210016796	+	Splice_Site	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr1:210016796G>A	ENST00000491415.2	+	11	1839	c.1782G>A	c.(1780-1782)agG>agA	p.R594R		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	594					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R594R(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCCAAATCAGGTTTAACTTTT	0.408																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											82.0	69.0	73.0					1																	210016796		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1782-1G>A	1.37:g.210016796G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75992|Q4VY00|Q63HL9	Silent	SNP	pfam_Digest_organ_expansion_fac-prd	p.R594	ENST00000491415.2	37	c.1782	CCDS1493.1	1																																																																																			DIEXF	-	pfam_Digest_organ_expansion_fac-prd	ENSG00000117597		0.408	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	40	0.00	0	G	NM_014388	Silent	210016796	210016796	+1	no_errors	ENST00000491415	ensembl	human	known	69_37n	silent	116	11.45	15	SNP	1.000	A
DSE	29940	genome.wustl.edu	37	6	116720421	116720421	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr6:116720421C>T	ENST00000331677.3	+	3	452	c.8C>T	c.(7-9)aCt>aTt	p.T3I	DSE_ENST00000537543.1_Missense_Mutation_p.T22I|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.T3I|DSE_ENST00000359564.2_Missense_Mutation_p.T3I			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	3					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)	p.T3I(1)		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)		ACGATGAGGACTCACACACGG	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	55.0	55.0					6																	116720421		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.8C>T	6.37:g.116720421C>T	ENSP00000332151:p.Thr3Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.T22I	ENST00000331677.3	37	c.65	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388388	0.82902	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.65	4.78	0.61160	.	0.100250	0.64402	D	0.000002	T	0.29256	0.0728	L	0.51422	1.61	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.57152	0.814;0.814	T	0.08391	-1.0724	10	0.87932	D	0	-11.1642	14.9221	0.70847	0.0:0.9318:0.0:0.0682	.	22;3	B7Z765;Q9UL01	.;DSE_HUMAN	I	3;3;22;3;3	ENSP00000397597:T3I;ENSP00000404049:T3I;ENSP00000441152:T22I;ENSP00000332151:T3I;ENSP00000352567:T3I	ENSP00000332151:T3I	T	+	2	0	DSE	116827114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.080000	0.76837	1.626000	0.50381	0.655000	0.94253	ACT	DSE	-	NULL	ENSG00000111817		0.463	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	32	0.00	0	C	NM_013352		116720421	116720421	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	1.000	T
EPPK1	83481	genome.wustl.edu	37	8	144941883	144941883	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr8:144941883C>T	ENST00000525985.1	-	2	5610	c.5539G>A	c.(5539-5541)Gtg>Atg	p.V1847M				P58107	EPIPL_HUMAN	epiplakin 1	1847						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V1847M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCGCCACTTTGATGCCT	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											203.0	209.0	207.0					8																	144941883		2101	4235	6336	-	-	-	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5539G>A	8.37:g.144941883C>T	ENSP00000436337:p.Val1847Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.V1847M	ENST00000525985.1	37	c.5539		8	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623729	0.66901	.	.	ENSG00000227184	ENST00000525985	T	0.68479	-0.33	5.1	2.25	0.28309	.	.	.	.	.	T	0.61986	0.2391	L	0.43152	1.355	0.21762	N	0.999551	D	0.53462	0.96	P	0.52309	0.695	T	0.50092	-0.8868	9	0.37606	T	0.19	.	3.2716	0.06884	0.3134:0.4498:0.1521:0.0847	.	1847	E9PPU0	.	M	1847	ENSP00000436337:V1847M	ENSP00000436337:V1847M	V	-	1	0	EPPK1	145013871	0.000000	0.05858	0.004000	0.12327	0.493000	0.33554	-0.248000	0.08854	0.292000	0.22492	0.585000	0.79938	GTG	EPPK1	-	NULL	ENSG00000227184		0.552	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	165	0.00	0	C	NM_031308		144941883	144941883	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	missense	280	31.80	131	SNP	0.897	T
FBXO3	26273	genome.wustl.edu	37	11	33795959	33795959	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr11:33795959C>T	ENST00000265651.3	-	1	103	c.85G>A	c.(85-87)Gac>Aac	p.D29N	RP11-646J21.5_ENST00000533046.1_RNA|RP11-646J21.5_ENST00000530352.1_RNA|FBXO3_ENST00000533103.1_5'Flank|FBXO3_ENST00000448981.2_Missense_Mutation_p.D29N|FBXO3_ENST00000526785.1_5'Flank|FBXO3_ENST00000534136.1_Missense_Mutation_p.D29N|RP11-646J21.6_ENST00000528779.1_RNA|FBXO3_ENST00000530401.1_Missense_Mutation_p.D29N	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	29	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.D29N(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCCCGATAGTCCAAAAAGGAT	0.647																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	57.0	60.0					11																	33795959		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.85G>A	11.37:g.33795959C>T	ENSP00000265651:p.Asp29Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like	p.D29N	ENST00000265651.3	37	c.85	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907655	0.52333	.	.	ENSG00000110429	ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.31	4.31	0.51392	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.123571	0.53938	D	0.000058	T	0.54967	0.1891	M	0.69523	2.12	0.47737	D	0.999509	B;B;P	0.35192	0.23;0.433;0.489	B;B;B	0.31869	0.027;0.05;0.137	T	0.60021	-0.7344	10	0.41790	T	0.15	-18.8249	13.8149	0.63285	0.0:1.0:0.0:0.0	.	29;29;29	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	N	29;26;29;29;29	ENSP00000265651:D29N;ENSP00000433781:D29N;ENSP00000431745:D29N;ENSP00000408836:D29N	ENSP00000265651:D29N	D	-	1	0	FBXO3	33752535	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.777000	0.55364	2.222000	0.72286	0.462000	0.41574	GAC	FBXO3	-	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	ENSG00000110429		0.647	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	25	0.00	0	C	NM_012175		33795959	33795959	-1	no_errors	ENST00000265651	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	T
GATM	2628	genome.wustl.edu	37	15	45661631	45661631	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr15:45661631T>A	ENST00000396659.3	-	3	716	c.377A>T	c.(376-378)gAa>gTa	p.E126V	GATM_ENST00000558336.1_Missense_Mutation_p.E126V	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	126					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)	p.E126V(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	TTCTTCAATTTCAGCAACAGC	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	112.0	113.0					15																	45661631		2198	4298	6496	-	-	-	SO:0001583	missense	0			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.377A>T	15.37:g.45661631T>A	ENSP00000379895:p.Glu126Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	NULL	p.E126V	ENST00000396659.3	37	c.377	CCDS10122.1	15	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711533	0.89112	.	.	ENSG00000171766	ENST00000396659	T	0.56611	0.45	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.963	T	0.80417	-0.1391	10	0.87932	D	0	-20.5757	14.0747	0.64882	0.0:0.0:0.0:1.0	.	126;126	P50440-3;P50440	.;GATM_HUMAN	V	126	ENSP00000379895:E126V	ENSP00000379895:E126V	E	-	2	0	GATM	43448923	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.600000	0.82769	2.186000	0.69663	0.533000	0.62120	GAA	GATM	-	NULL	ENSG00000171766		0.393	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATM	HGNC	protein_coding	OTTHUMT00000254220.2	234	0.00	0	T	NM_001482		45661631	45661631	-1	no_errors	ENST00000396659	ensembl	human	known	69_37n	missense	253	21.18	68	SNP	1.000	A
GPR32	2854	genome.wustl.edu	37	19	51274851	51274851	+	Missense_Mutation	SNP	A	A	C	rs201404376		TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr19:51274851A>C	ENST00000270590.4	+	1	1131	c.994A>C	c.(994-996)Act>Cct	p.T332P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGTCTTTGACTTCTGCCCT	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	dbGAP											0													66.0	71.0	69.0					19																	51274851		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.994A>C	19.37:g.51274851A>C	ENSP00000270590:p.Thr332Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.T332P	ENST00000270590.4	37	c.994	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.066505	0.00382	.	.	ENSG00000142511	ENST00000270590	T	0.36699	1.24	2.71	-0.781	0.10965	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	9	0.02654	T	1	.	3.6506	0.08202	0.205:0.5623:0.0:0.2327	.	332	O75388	GPR32_HUMAN	P	332	ENSP00000270590:T332P	ENSP00000270590:T332P	T	+	1	0	GPR32	55966663	0.000000	0.05858	0.025000	0.17156	0.653000	0.38743	0.089000	0.15002	-0.262000	0.09392	-0.755000	0.03482	ACT	GPR32	-	prints_Frt_met_rcpt	ENSG00000142511		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	58	0.00	0	A			51274851	51274851	+1	no_errors	ENST00000270590	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	0.018	C
IGHV3-49	28423	genome.wustl.edu	37	14	107013049	107013049	+	RNA	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr14:107013049G>A	ENST00000390625.2	-	0	325									immunoglobulin heavy variable 3-49																		TCACAGACGCGGCGTATTCTG	0.498																																						dbGAP											0													118.0	114.0	116.0					14																	107013049		1938	4132	6070	-	-	-			0			M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013049G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A82	ENST00000390625.2	37	c.246		14																																																																																			IGHV3-49	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211965		0.498	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-49	HGNC	IG_V_gene	OTTHUMT00000324613.1	98	0.00	0	G	NG_001019		107013049	107013049	-1	no_stop_codon	ENST00000390625	ensembl	human	known	69_37n	silent	212	14.52	36	SNP	0.000	A
MBD6	114785	genome.wustl.edu	37	12	57922185	57922185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr12:57922185C>T	ENST00000355673.3	+	10	3018	c.2662C>T	c.(2662-2664)Cga>Tga	p.R888*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.R888*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	888						chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R888*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGAGCCTGGCCGACTGGCCCT	0.637																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											18.0	23.0	22.0					12																	57922185		2112	4255	6367	-	-	-	SO:0001587	stop_gained	0			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2662C>T	12.37:g.57922185C>T	ENSP00000347896:p.Arg888*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3M0|Q8NA81|Q96Q00	Nonsense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.R888*	ENST00000355673.3	37	c.2662	CCDS8944.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	41|41	9.003262|9.003262	0.99033|0.99033	.|.	.|.	ENSG00000166987|ENSG00000166987	ENST00000552163|ENST00000355673;ENST00000431731;ENST00000300263	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.126361	.|0.34555	.|N	.|0.003868	T|.	0.34978|.	0.0916|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27739|.	-1.0065|.	3|.	.|0.02654	.|T	.|1	-3.1297|-3.1297	14.1269|14.1269	0.65228|0.65228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	122|888;888;352	.|.	.|ENSP00000300263:R352X	P|R	+|+	2|1	0|2	MBD6|MBD6	56208452|56208452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.105000|2.105000	0.41825|0.41825	2.810000|2.810000	0.96702|0.96702	0.645000|0.645000	0.84053|0.84053	CCG|CGA	MBD6	-	NULL	ENSG00000166987		0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	17	0.00	0	C			57922185	57922185	+1	no_errors	ENST00000355673	ensembl	human	known	69_37n	nonsense	13	48.00	12	SNP	1.000	T
KDM2B	84678	genome.wustl.edu	37	12	121880585	121880585	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr12:121880585G>A	ENST00000377071.4	-	19	2731	c.2659C>T	c.(2659-2661)Cgg>Tgg	p.R887W	KDM2B_ENST00000542973.1_Missense_Mutation_p.R255W|KDM2B_ENST00000377069.4_Missense_Mutation_p.R818W|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	887					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.R526W(1)|p.R887W(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGAAGCGCCGGAGGGGCTTG	0.716																																						dbGAP											2	Substitution - Missense(2)	breast(2)											9.0	11.0	10.0					12																	121880585		1871	4067	5938	-	-	-	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2659C>T	12.37:g.121880585G>A	ENSP00000366271:p.Arg887Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	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.R887W	ENST00000377071.4	37	c.2659	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377077	0.82682	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25579	2.07;2.33;1.79	5.97	4.04	0.47022	.	0.176388	0.27932	N	0.017278	T	0.42966	0.1226	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;P;P	0.62885	0.867;0.908;0.874;0.908	T	0.35001	-0.9806	10	0.87932	D	0	-17.498	15.0884	0.72174	0.0:0.0:0.702:0.298	.	327;887;818;330	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	W	875;255;818;887;330;890	ENSP00000437821:R255W;ENSP00000366269:R818W;ENSP00000366271:R887W	ENSP00000261824:R890W	R	-	1	2	KDM2B	120364968	1.000000	0.71417	0.810000	0.32431	0.994000	0.84299	2.351000	0.44071	0.706000	0.31912	0.655000	0.94253	CGG	KDM2B	-	NULL	ENSG00000089094		0.716	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	16	0.00	0	G	NM_032590		121880585	121880585	-1	no_errors	ENST00000377071	ensembl	human	known	69_37n	missense	19	44.12	15	SNP	0.930	A
MUC4	4585	genome.wustl.edu	37	3	195516064	195516064	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr3:195516064C>T	ENST00000463781.3	-	2	2846	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MUC4_ENST00000475231.1_Missense_Mutation_p.R796Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	801	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.R796Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGTGGTTCGTGACCCTGA	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											100.0	111.0	108.0					3																	195516064		2180	4275	6455	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2387G>A	3.37:g.195516064C>T	ENSP00000417498:p.Arg796Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.R796Q	ENST00000463781.3	37	c.2387	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	7.648	0.682225	0.14907	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.51325	0.71;0.73	2.59	-3.42	0.04825	.	2.040130	0.02641	N	0.105341	T	0.23766	0.0575	N	0.14661	0.345	0.09310	N	1	B;B	0.26975	0.165;0.001	B;B	0.08055	0.003;0.0	T	0.05068	-1.0908	10	0.14252	T	0.57	-1.2694	3.8705	0.09035	0.0:0.2731:0.3991:0.3278	.	796;801	E7ESK3;Q99102	.;MUC4_HUMAN	Q	796;796;770	ENSP00000417498:R796Q;ENSP00000420243:R796Q	ENSP00000376209:R770Q	R	-	2	0	MUC4	197000459	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.106000	0.10890	-0.730000	0.04869	-0.354000	0.07668	CGA	MUC4	-	NULL	ENSG00000145113		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	69	0.00	0	C	NM_018406		195516064	195516064	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	193	16.38	38	SNP	0.000	T
NACAD	23148	genome.wustl.edu	37	7	45120522	45120522	+	Silent	SNP	G	G	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr7:45120522G>T	ENST00000490531.2	-	6	4523	c.4504C>A	c.(4504-4506)Cgg>Agg	p.R1502R		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1502					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R1502R(1)		breast(1)|endometrium(2)|skin(2)	5						AGCCTCACCCGGGGCCTGGGT	0.627																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											37.0	37.0	37.0					7																	45120522		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4504C>A	7.37:g.45120522G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.R1502	ENST00000490531.2	37	c.4504	CCDS47582.1	7																																																																																			NACAD	-	NULL	ENSG00000136274		0.627	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	31	0.00	0	G	NM_001146334		45120522	45120522	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	silent	49	33.78	25	SNP	0.001	T
NALCN	259232	genome.wustl.edu	37	13	101726980	101726980	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr13:101726980C>T	ENST00000251127.6	-	36	4069	c.3988G>A	c.(3988-3990)Gtc>Atc	p.V1330I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1330					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)	p.V1330I(1)		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)					TACATGCTGACGACCACTGTC	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	115.0	115.0					13																	101726980		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.3988G>A	13.37:g.101726980C>T	ENSP00000251127:p.Val1330Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V1330I	ENST00000251127.6	37	c.3988	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925264	0.92319	.	.	ENSG00000102452	ENST00000251127	D	0.98455	-4.94	5.8	5.8	0.92144	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	L	0.45422	1.42	0.80722	D	1	D	0.53312	0.959	P	0.52514	0.701	D	0.98169	1.0451	10	0.59425	D	0.04	.	20.0978	0.97857	0.0:1.0:0.0:0.0	.	1330	Q8IZF0	NALCN_HUMAN	I	1330	ENSP00000251127:V1330I	ENSP00000251127:V1330I	V	-	1	0	NALCN	100524981	1.000000	0.71417	0.966000	0.40874	0.717000	0.41224	7.487000	0.81328	2.767000	0.95098	0.585000	0.79938	GTC	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.478	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	74	0.00	0	C	NM_052867		101726980	101726980	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	56	24.32	18	SNP	1.000	T
NBPF1	55672	genome.wustl.edu	37	1	16891340	16891340	+	Missense_Mutation	SNP	T	T	A	rs3962237	byFrequency	TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr1:16891340T>A	ENST00000430580.2	-	28	4025	c.3138A>T	c.(3136-3138)agA>agT	p.R1046S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ccccttcttttcttccccttc	0.433																																						dbGAP											0													59.0	26.0	42.0					1																	16891340		621	667	1288	-	-	-	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3138A>T	1.37:g.16891340T>A	ENSP00000474456:p.Arg1046Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	19	0.00	0	T	NM_017940		16891340	16891340	-1	no_errors	ENST00000401007	ensembl	human	known	69_37n	rna	25	19.35	6	SNP	0.060	A
NUP153	9972	genome.wustl.edu	37	6	17688750	17688750	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr6:17688750C>T	ENST00000262077.2	-	2	210	c.211G>A	c.(211-213)Gac>Aac	p.D71N	NUP153_ENST00000537253.1_Missense_Mutation_p.D71N	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	71					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)	p.D71N(1)		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)			TCGCTTGTGTCTGTTGAACAG	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											159.0	148.0	152.0					6																	17688750		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.211G>A	6.37:g.17688750C>T	ENSP00000262077:p.Asp71Asn	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.D71N	ENST00000262077.2	37	c.211	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943619	0.34283	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07567	3.18;3.2	5.47	4.59	0.56863	.	0.116409	0.37906	N	0.001897	T	0.01730	0.0055	N	0.12746	0.255	0.30000	N	0.816119	B;B;B	0.18310	0.027;0.004;0.004	B;B;B	0.16289	0.015;0.004;0.004	T	0.43228	-0.9404	10	0.34782	T	0.22	-6.8895	11.6777	0.51440	0.0:0.916:0.0:0.084	.	71;93;71	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	N	71;93;71	ENSP00000262077:D71N;ENSP00000444029:D71N	ENSP00000262077:D71N	D	-	1	0	NUP153	17796729	1.000000	0.71417	0.931000	0.37212	0.436000	0.31835	2.452000	0.44961	1.266000	0.44231	0.650000	0.86243	GAC	NUP153	-	NULL	ENSG00000124789		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	121	0.00	0	C			17688750	17688750	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	186	22.18	53	SNP	0.567	T
PAX8	7849	genome.wustl.edu	37	2	113994287	113994287	+	Silent	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr2:113994287C>T	ENST00000429538.3	-	8	983	c.789G>A	c.(787-789)ccG>ccA	p.P263P	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Silent_p.P263P|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Intron|PAX8_ENST00000348715.5_Silent_p.P263P|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	263					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.P263P(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCAAGGGCAGCGGGTAGAGGC	0.627			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	dbGAP		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	1	Substitution - coding silent(1)	breast(1)											35.0	45.0	42.0					2																	113994287		2154	4246	6400	-	-	-	SO:0001819	synonymous_variant	0			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.789G>A	2.37:g.113994287C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	pfam_Pax2_C	p.A49T	ENST00000429538.3	37	c.145	CCDS46398.1	2	.	.	.	.	.	.	.	.	.	.	c	9.344	1.063889	0.20067	.	.	ENSG00000125618	ENST00000468980	.	.	.	5.48	-11.0	0.00169	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59413	-0.7459	4	.	.	.	.	9.5667	0.39402	0.0957:0.111:0.0776:0.7157	.	.	.	.	T	49	.	.	A	-	1	0	PAX8	113710758	0.005000	0.15991	0.250000	0.24296	0.945000	0.59286	-2.169000	0.01269	-2.351000	0.00617	-1.616000	0.00795	GCT	PAX8	-	NULL	ENSG00000125618		0.627	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX8	HGNC	protein_coding	OTTHUMT00000250353.5	19	0.00	0	C			113994287	113994287	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000468980	ensembl	human	putative	69_37n	missense	28	24.32	9	SNP	0.097	T
PDE6A	5145	genome.wustl.edu	37	5	149310662	149310662	+	Silent	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr5:149310662G>A	ENST00000255266.5	-	4	906	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	263	GAF 2.				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)	p.L263L(1)		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)	ACTGTGTACAGGGCTTTGTGG	0.438																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											155.0	128.0	137.0					5																	149310662		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.787C>T	5.37:g.149310662G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P638	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L263	ENST00000255266.5	37	c.787	CCDS4299.1	5																																																																																			PDE6A	-	pfam_GAF,smart_GAF	ENSG00000132915		0.438	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	100	0.00	0	G			149310662	149310662	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	silent	104	38.10	64	SNP	1.000	A
POP1	10940	genome.wustl.edu	37	8	99146755	99146755	+	Silent	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr8:99146755G>A	ENST00000401707.2	+	7	960	c.879G>A	c.(877-879)gtG>gtA	p.V293V	POP1_ENST00000349693.3_Silent_p.V293V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	293					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.V293V(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGCCTTGTGCTTTATCGGG	0.507																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											124.0	125.0	125.0					8																	99146755		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.879G>A	8.37:g.99146755G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W9|Q15037	Silent	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.V293	ENST00000401707.2	37	c.879	CCDS6277.1	8																																																																																			POP1	-	NULL	ENSG00000104356		0.507	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	HGNC	protein_coding	OTTHUMT00000379470.1	121	0.00	0	G	NM_015029		99146755	99146755	+1	no_errors	ENST00000349693	ensembl	human	known	69_37n	silent	141	49.28	137	SNP	0.436	A
PPWD1	23398	genome.wustl.edu	37	5	64865548	64865548	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr5:64865548G>A	ENST00000261308.5	+	3	461	c.389G>A	c.(388-390)cGt>cAt	p.R130H	PPWD1_ENST00000535264.1_Missense_Mutation_p.R100H|PPWD1_ENST00000538977.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	130					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R130H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AAACATTTTCGTAGTCACCTG	0.289																																						dbGAP											1	Substitution - Missense(1)	breast(1)											59.0	62.0	61.0					5																	64865548		2203	4295	6498	-	-	-	SO:0001583	missense	0			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.389G>A	5.37:g.64865548G>A	ENSP00000261308:p.Arg130His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R130H	ENST00000261308.5	37	c.389	CCDS3985.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.269723	0.95429	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000502703;ENST00000505380	T;T;T;T	0.66815	-0.08;-0.08;-0.23;-0.08	5.53	5.53	0.82687	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	0.80747	0.4682	M	0.65320	2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.81008	-0.1127	10	0.56958	D	0.05	.	19.0887	0.93217	0.0:0.0:1.0:0.0	.	100;130	F5H7P7;Q96BP3	.;PPWD1_HUMAN	H	130;100;34;49	ENSP00000261308:R130H;ENSP00000442371:R100H;ENSP00000427054:R34H;ENSP00000423234:R49H	ENSP00000261308:R130H	R	+	2	0	PPWD1	64901304	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.954000	0.87848	2.605000	0.88082	0.655000	0.94253	CGT	PPWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000113593		0.289	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	HGNC	protein_coding	OTTHUMT00000253970.2	165	0.00	0	G	NM_015342		64865548	64865548	+1	no_errors	ENST00000261308	ensembl	human	known	69_37n	missense	132	19.02	31	SNP	1.000	A
PTCHD2	57540	genome.wustl.edu	37	1	11591050	11591050	+	Silent	SNP	C	C	T	rs202188093		TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr1:11591050C>T	ENST00000294484.6	+	16	3327	c.3189C>T	c.(3187-3189)tcC>tcT	p.S1063S	PTCHD2_ENST00000389575.3_Silent_p.S1063S|PTCHD2_ENST00000304391.6_5'Flank	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1063					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.S1280>?(1)|p.S1280S(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGCCAACTCCGAGCTGGTGA	0.607																																						dbGAP											2	Complex(1)|Substitution - coding silent(1)	NS(1)|breast(1)											79.0	91.0	87.0					1																	11591050		2070	4203	6273	-	-	-	SO:0001819	synonymous_variant	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3189C>T	1.37:g.11591050C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.S1063	ENST00000294484.6	37	c.3189	CCDS41247.1	1																																																																																			PTCHD2	-	NULL	ENSG00000204624		0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	24	0.00	0	C	XM_052561		11591050	11591050	+1	no_errors	ENST00000294484	ensembl	human	known	69_37n	silent	21	41.67	15	SNP	0.003	T
RELN	5649	genome.wustl.edu	37	7	103234235	103234235	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr7:103234235A>C	ENST00000428762.1	-	27	3965	c.3806T>G	c.(3805-3807)tTc>tGc	p.F1269C	RELN_ENST00000343529.5_Missense_Mutation_p.F1269C|RELN_ENST00000424685.2_Missense_Mutation_p.F1269C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1269					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)	p.F1269C(1)		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)		GGCAGCACAGAAGGTTTCATT	0.393																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											1	Substitution - Missense(1)	breast(1)											155.0	140.0	145.0					7																	103234235		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.3806T>G	7.37:g.103234235A>C	ENSP00000392423:p.Phe1269Cys	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.F1269C	ENST00000428762.1	37	c.3806	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560973	0.65538	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.27104	1.69;1.69;1.69	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	M	0.67397	2.05	0.52501	D	0.999956	P;P	0.51791	0.939;0.948	P;P	0.48901	0.584;0.594	T	0.19224	-1.0312	10	0.62326	D	0.03	.	12.274	0.54724	0.873:0.0:0.0:0.127	.	1269;1269	P78509-2;P78509	.;RELN_HUMAN	C	1269	ENSP00000392423:F1269C;ENSP00000345694:F1269C;ENSP00000388446:F1269C	ENSP00000345694:F1269C	F	-	2	0	RELN	103021471	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.686000	0.74548	2.326000	0.78906	0.533000	0.62120	TTC	RELN	-	superfamily_Growth_fac_rcpt	ENSG00000189056		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	135	0.00	0	A	NM_005045		103234235	103234235	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	263	15.16	47	SNP	1.000	C
SIN3A	25942	genome.wustl.edu	37	15	75684981	75684981	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr15:75684981T>C	ENST00000394947.3	-	15	2767	c.2453A>G	c.(2452-2454)cAt>cGt	p.H818R	SIN3A_ENST00000360439.4_Missense_Mutation_p.H818R|SIN3A_ENST00000394949.4_Missense_Mutation_p.H818R	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.H818R(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						TGGAATAAAATGATGCATGAT	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											182.0	164.0	170.0					15																	75684981		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.2453A>G	15.37:g.75684981T>C	ENSP00000378402:p.His818Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.H818R	ENST00000394947.3	37	c.2453	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	T	14.57	2.576161	0.45902	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.42131	0.98;0.98;0.98	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	L	0.45137	1.4	0.80722	D	1	P	0.36027	0.533	B	0.39379	0.298	T	0.12451	-1.0547	10	0.09843	T	0.71	-26.3062	15.3114	0.74035	0.0:0.0:0.0:1.0	.	818	Q96ST3	SIN3A_HUMAN	R	818	ENSP00000378402:H818R;ENSP00000378403:H818R;ENSP00000353622:H818R	ENSP00000353622:H818R	H	-	2	0	SIN3A	73472034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.009000	0.88606	2.218000	0.71995	0.533000	0.62120	CAT	SIN3A	-	NULL	ENSG00000169375		0.428	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	167	0.00	0	T	NM_015477		75684981	75684981	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	missense	104	45.83	88	SNP	1.000	C
SP110	3431	genome.wustl.edu	37	2	231033848	231033848	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr2:231033848G>A	ENST00000358662.4	-	18	2140	c.2062C>T	c.(2062-2064)Ctt>Ttt	p.L688F	SP110_ENST00000258381.6_Missense_Mutation_p.L712F|AC009950.2_ENST00000445199.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000595586.2_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	688					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.L712F(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGTCAAGGAAGAGTCCAGAAA	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											166.0	174.0	171.0					2																	231033848		2203	4300	6503	-	-	-	SO:0001583	missense	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.2062C>T	2.37:g.231033848G>A	ENSP00000351488:p.Leu688Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,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.L712F	ENST00000358662.4	37	c.2134	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	G	6.029	0.373708	0.11409	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.53423	0.81;0.62	2.73	-0.271	0.12922	.	.	.	.	.	T	0.25269	0.0614	N	0.22421	0.69	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.14578	0.005;0.011	T	0.21930	-1.0231	9	0.13853	T	0.58	.	2.8421	0.05533	0.3029:0.248:0.4491:0.0	.	688;712	Q9HB58;Q9HB58-6	SP110_HUMAN;.	F	712;688	ENSP00000258381:L712F;ENSP00000351488:L688F	ENSP00000258381:L712F	L	-	1	0	SP110	230742092	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.021000	0.12504	0.039000	0.15632	-0.222000	0.12452	CTT	SP110	-	NULL	ENSG00000135899		0.493	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	71	0.00	0	G	NM_080424		231033848	231033848	-1	no_errors	ENST00000258381	ensembl	human	known	69_37n	missense	104	16.80	21	SNP	0.000	A
SP110	3431	genome.wustl.edu	37	2	231077653	231077653	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr2:231077653G>T	ENST00000358662.4	-	4	484	c.406C>A	c.(406-408)Cca>Aca	p.P136T	SP110_ENST00000540870.1_Missense_Mutation_p.P142T|SP110_ENST00000258382.5_Missense_Mutation_p.P136T|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000258381.6_Missense_Mutation_p.P136T|SP110_ENST00000486146.2_5'Flank|SP110_ENST00000392048.3_Missense_Mutation_p.P136T	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	136					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P136T(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGCGCCAGTGGGGTATGGAGG	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											99.0	100.0	100.0					2																	231077653		2203	4300	6503	-	-	-	SO:0001583	missense	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.406C>A	2.37:g.231077653G>T	ENSP00000351488:p.Pro136Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,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.P136T	ENST00000358662.4	37	c.406	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459769	0.26248	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000409815;ENST00000455674	T;T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09;3.09	4.11	4.11	0.48088	.	0.634208	0.12082	N	0.501235	T	0.04588	0.0125	N	0.08118	0	0.49915	D	0.99983	B;B;B;B	0.31125	0.11;0.11;0.309;0.094	B;B;B;B	0.26969	0.075;0.075;0.049;0.059	T	0.51004	-0.8760	10	0.22109	T	0.4	.	12.1511	0.54050	0.0:0.0:1.0:0.0	.	136;142;136;136	G5E9C0;F5H1M1;Q9HB58;Q9HB58-6	.;.;SP110_HUMAN;.	T	136;136;136;136;142;136;90	ENSP00000258381:P136T;ENSP00000351488:P136T;ENSP00000375902:P136T;ENSP00000258382:P136T;ENSP00000439558:P142T;ENSP00000387172:P136T;ENSP00000393992:P90T	ENSP00000258381:P136T	P	-	1	0	SP110	230785897	0.004000	0.15560	0.011000	0.14972	0.001000	0.01503	1.246000	0.32803	2.574000	0.86865	0.650000	0.86243	CCA	SP110	-	NULL	ENSG00000135899		0.567	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	47	0.00	0	G	NM_080424		231077653	231077653	-1	no_errors	ENST00000258381	ensembl	human	known	69_37n	missense	147	18.68	34	SNP	0.011	T
STRA8	346673	genome.wustl.edu	37	7	134925368	134925368	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr7:134925368G>A	ENST00000275764.3	+	2	158	c.158G>A	c.(157-159)cGg>cAg	p.R53Q		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.R53Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						CGGGTGGCCCGGAGACGGCTG	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											45.0	52.0	50.0					7																	134925368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.158G>A	7.37:g.134925368G>A	ENSP00000275764:p.Arg53Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_HLH_DNA-bd	p.R53Q	ENST00000275764.3	37	c.158	CCDS5839.1	7	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625279	0.66901	.	.	ENSG00000146857	ENST00000275764	D	0.97575	-4.44	5.03	4.15	0.48705	.	0.105477	0.40554	N	0.001077	D	0.95796	0.8632	L	0.49126	1.545	0.09310	N	1	D	0.57899	0.981	P	0.50405	0.64	D	0.91085	0.4902	10	0.72032	D	0.01	-16.1412	8.6283	0.33904	0.2334:0.0:0.7666:0.0	.	53	Q7Z7C7	STRA8_HUMAN	Q	53	ENSP00000275764:R53Q	ENSP00000275764:R53Q	R	+	2	0	STRA8	134575908	0.966000	0.33281	0.986000	0.45419	0.804000	0.45430	3.396000	0.52565	1.127000	0.42034	0.455000	0.32223	CGG	STRA8	-	superfamily_HLH_DNA-bd	ENSG00000146857		0.582	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA8	HGNC	protein_coding	OTTHUMT00000340028.1	25	0.00	0	G	NM_182489		134925368	134925368	+1	no_errors	ENST00000275764	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	0.006	A
TEX35	84066	genome.wustl.edu	37	1	178490385	178490385	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr1:178490385A>G	ENST00000319416.2	+	8	684	c.572A>G	c.(571-573)aAc>aGc	p.N191S	TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367643.3_Missense_Mutation_p.N191S|TEX35_ENST00000367639.1_Missense_Mutation_p.N199S|TEX35_ENST00000258298.2_Missense_Mutation_p.N115S	NM_032126.4	NP_115502.2			testis expressed 35									p.N191S(2)									GCTCTAAAGAACAACTACAAT	0.498																																						dbGAP											2	Substitution - Missense(2)	breast(2)											243.0	230.0	234.0					1																	178490385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.572A>G	1.37:g.178490385A>G	ENSP00000323795:p.Asn191Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.N191S	ENST00000319416.2	37	c.572	CCDS1323.1	1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708209	0.48412	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367639	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.06	2.84	0.33178	.	0.287226	0.25344	N	0.031352	T	0.19446	0.0467	L	0.48642	1.525	0.18873	N	0.999981	B;B	0.33807	0.206;0.426	B;B	0.35278	0.124;0.199	T	0.10291	-1.0636	10	0.54805	T	0.06	-8.6427	9.9016	0.41351	0.4873:0.5127:0.0:0.0	.	199;191	Q5T0J7-2;Q5T0J7	.;CA049_HUMAN	S	191;115;191;199	ENSP00000323795:N191S;ENSP00000258298:N115S;ENSP00000356615:N191S;ENSP00000356611:N199S	ENSP00000258298:N115S	N	+	2	0	C1orf49	176757008	0.999000	0.42202	0.548000	0.28192	0.867000	0.49689	1.018000	0.30002	0.435000	0.26365	0.438000	0.28831	AAC	TEX35	-	NULL	ENSG00000240021		0.498	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX35	HGNC	protein_coding	OTTHUMT00000084917.1	136	0.00	0	A	NM_032126		178490385	178490385	+1	no_errors	ENST00000319416	ensembl	human	known	69_37n	missense	260	32.82	127	SNP	0.485	G
THADA	63892	genome.wustl.edu	37	2	43805695	43805695	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr2:43805695A>C	ENST00000405006.4	-	9	1124	c.773T>G	c.(772-774)tTt>tGt	p.F258C	THADA_ENST00000405975.2_Missense_Mutation_p.F258C|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000403856.1_Missense_Mutation_p.F258C|THADA_ENST00000402360.2_Missense_Mutation_p.F258C|THADA_ENST00000404790.1_Missense_Mutation_p.F258C	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	258								p.F258C(1)		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)				AGTCTTAATAAAAAGAATAAT	0.323																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	61.0	61.0					2																	43805695		1822	4076	5898	-	-	-	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.773T>G	2.37:g.43805695A>C	ENSP00000385995:p.Phe258Cys	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.F258C	ENST00000405006.4	37	c.773	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136454	0.77662	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.65549	2.81;2.81;-0.16;-0.16;1.35	4.64	4.64	0.57946	.	0.208574	0.41396	D	0.000894	T	0.74974	0.3787	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.993;0.997	D;P;P;P	0.67548	0.952;0.891;0.855;0.781	T	0.77861	-0.2430	10	0.66056	D	0.02	-9.5879	13.0775	0.59095	1.0:0.0:0.0:0.0	.	258;258;258;258	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	C	258	ENSP00000386088:F258C;ENSP00000385995:F258C;ENSP00000385441:F258C;ENSP00000384266:F258C;ENSP00000385469:F258C	ENSP00000349464:F258C	F	-	2	0	THADA	43659199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.113000	0.77095	2.078000	0.62432	0.533000	0.62120	TTT	THADA	-	NULL	ENSG00000115970		0.323	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	81	0.00	0	A	NM_022065		43805695	43805695	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	48	18.33	11	SNP	0.998	C
TLE4	7091	genome.wustl.edu	37	9	82227582	82227582	+	Silent	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr9:82227582C>T	ENST00000376552.2	+	5	1282	c.264C>T	c.(262-264)gtC>gtT	p.V88V	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Silent_p.V88V|TLE4_ENST00000376544.3_Silent_p.V88V|TLE4_ENST00000376537.4_Silent_p.V88V|TLE4_ENST00000376520.4_Silent_p.V88V|TLE4_ENST00000455913.1_3'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	88	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.V88V(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGAGATTGTCAAGAGGCTGA	0.398																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											188.0	166.0	173.0					9																	82227582		1879	4109	5988	-	-	-	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.264C>T	9.37:g.82227582C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.V88	ENST00000376552.2	37	c.264	CCDS43837.1	9																																																																																			TLE4	-	pfam_Groucho/TLE_N	ENSG00000106829		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	222	0.00	0	C	XM_212237		82227582	82227582	+1	no_errors	ENST00000376520	ensembl	human	known	69_37n	silent	308	23.33	94	SNP	1.000	T
TNFAIP3	7128	genome.wustl.edu	37	6	138198386	138198386	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr6:138198386G>T	ENST00000237289.4	+	6	1045	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	TNFAIP3_ENST00000485192.1_3'UTR	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	327	2 X approximate repeats.				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)|p.A327S(1)		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)		TCTCATCAATGCCGCAAAGTA	0.458			"""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	26	Whole gene deletion(25)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(25)|breast(1)											90.0	93.0	92.0					6																	138198386		2203	4300	6503	-	-	-	SO:0001583	missense	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.979G>T	6.37:g.138198386G>T	ENSP00000237289:p.Ala327Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.A327S	ENST00000237289.4	37	c.979	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430067	0.83776	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.28255	1.62	6.08	6.08	0.98989	.	0.049603	0.85682	D	0.000000	T	0.22475	0.0542	L	0.29908	0.895	0.80722	D	1	P	0.35050	0.482	B	0.41666	0.363	T	0.03910	-1.0993	10	0.66056	D	0.02	-1.3963	18.8453	0.92203	0.0:0.0:1.0:0.0	.	327	P21580	TNAP3_HUMAN	S	327	ENSP00000237289:A327S	ENSP00000237289:A327S	A	+	1	0	TNFAIP3	138240079	1.000000	0.71417	0.971000	0.41717	0.971000	0.66376	7.296000	0.78790	2.890000	0.99128	0.655000	0.94253	GCC	TNFAIP3	-	NULL	ENSG00000118503		0.458	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	67	0.00	0	G			138198386	138198386	+1	no_errors	ENST00000237289	ensembl	human	known	69_37n	missense	81	40.44	55	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		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)	GGGCAACTGACCGTGCAAGTC	0.532		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"""	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	GRCh37	CS951538	TP53	S							66.0	61.0	63.0					17																	7579311		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.375+1G>T	17.37:g.7579311C>A		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	Splice_Site	SNP	-	e3+1	ENST00000269305.4	37	c.375+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	12	0.00	0	C	NM_000546	Intron	7579311	7579311	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	6	62.50	10	SNP	1.000	A
TRIM64B	642446	genome.wustl.edu	37	11	89608899	89608899	+	Missense_Mutation	SNP	T	T	G	rs201022110	byFrequency	TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr11:89608899T>G	ENST00000329862.6	-	1	286	c.287A>C	c.(286-288)gAg>gCg	p.E96A		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	96						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						CTTAGTCTCCTCATGGAGCAC	0.507													t|||	1413	0.282149	0.4433	0.2378	5008	,	,		24915	0.1696		0.2197	False		,,,				2504	0.2761					dbGAP											0													7.0	7.0	7.0					11																	89608899		495	1394	1889	-	-	-	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.287A>C	11.37:g.89608899T>G	ENSP00000332969:p.Glu96Ala	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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.E96A	ENST00000329862.6	37	c.287	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	7.335	0.619740	0.14193	.	.	ENSG00000189253	ENST00000329862	T	0.57436	0.4	2.06	-2.81	0.05805	.	.	.	.	.	T	0.49081	0.1536	M	0.67569	2.06	0.80722	P	0.0	.	.	.	.	.	.	T	0.51733	-0.8668	5	.	.	.	.	3.3853	0.07269	0.0:0.2863:0.2094:0.5043	.	.	.	.	A	96	ENSP00000332969:E96A	.	E	-	2	0	TRIM64B	89248547	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.140000	0.16056	-0.854000	0.04131	0.321000	0.21382	GAG	TRIM64B	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000189253		0.507	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	9	0.00	0	T			89608899	89608899	-1	no_errors	ENST00000329862	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.000	G
TRIP4	9325	genome.wustl.edu	37	15	64717756	64717756	+	Missense_Mutation	SNP	G	G	A	rs370595309		TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr15:64717756G>A	ENST00000261884.3	+	11	1561	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	501					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D501N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATTTCCTAATGACTATCCGTC	0.358																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	125.0	125.0					15																	64717756		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1501G>A	15.37:g.64717756G>A	ENSP00000261884:p.Asp501Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain	p.D501N	ENST00000261884.3	37	c.1501	CCDS10194.1	15	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161753	0.57368	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.07	5.07	0.68467	ASCH domain (1);PUA-like domain (1);	0.084156	0.85682	D	0.000000	T	0.67468	0.2896	L	0.39898	1.24	0.58432	D	0.999999	D	0.54397	0.966	D	0.64042	0.921	T	0.65504	-0.6152	9	0.36615	T	0.2	-16.0007	18.4442	0.90678	0.0:0.0:1.0:0.0	.	501	Q15650	TRIP4_HUMAN	N	501	.	ENSP00000261884:D501N	D	+	1	0	TRIP4	62504809	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	9.016000	0.93645	2.347000	0.79759	0.455000	0.32223	GAC	TRIP4	-	pfam_ASCH_domain,superfamily_PUA-like_domain	ENSG00000103671		0.358	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	HGNC	protein_coding	OTTHUMT00000256635.2	220	0.00	0	G	NM_016213		64717756	64717756	+1	no_errors	ENST00000261884	ensembl	human	known	69_37n	missense	227	22.26	65	SNP	1.000	A
VCAN	1462	genome.wustl.edu	37	5	82815167	82815167	+	Splice_Site	SNP	G	G	C			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr5:82815167G>C	ENST00000265077.3	+	7	1607		c.e7-1		VCAN_ENST00000342785.4_Splice_Site|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Splice_Site|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						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)	p.?(1)		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)	TATTTTTCTAGCTAAAGAGGC	0.363																																						dbGAP											1	Unknown(1)	breast(1)											59.0	62.0	61.0					5																	82815167		2202	4298	6500	-	-	-	SO:0001630	splice_region_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.1043-1G>C	5.37:g.82815167G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Splice_Site	SNP	-	e6-1	ENST00000265077.3	37	c.1043-1	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508730	0.64410	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6164	0.84917	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VCAN	82850923	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.532000	0.67154	2.662000	0.90505	0.655000	0.94253	.	VCAN	-	-	ENSG00000038427		0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	57	0	0	G	NM_004385	Intron	82815167	82815167	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	splice_site	52	10.34	6	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82815167	82815167	+	Splice_Site	SNP	G	G	C			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr5:82815167G>C	ENST00000265077.3	+	7	1607		c.e7-1		VCAN_ENST00000342785.4_Splice_Site|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Splice_Site|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						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)	p.?(1)		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)	TATTTTTCTAGCTAAAGAGGC	0.363																																						dbGAP											1	Unknown(1)	breast(1)											59.0	62.0	61.0					5																	82815167		2202	4298	6500	-	-	-	SO:0001630	splice_region_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.1043-1G>C	5.37:g.82815167G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Splice_Site	SNP	-	e6-1	ENST00000265077.3	37	c.1043-1	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508730	0.64410	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6164	0.84917	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VCAN	82850923	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.532000	0.67154	2.662000	0.90505	0.655000	0.94253	.	VCAN	-	-	ENSG00000038427		0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	57	0.00	0	G	NM_004385	Intron	82815167	82815167	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	splice_site	52	10.34	6	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82817148	82817148	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr5:82817148A>G	ENST00000265077.3	+	7	3588	c.3023A>G	c.(3022-3024)gAt>gGt	p.D1008G	VCAN_ENST00000342785.4_Missense_Mutation_p.D1008G|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D960G|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1008	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.D1008G(1)		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)	CTTGTCATTGATCAGACTCGC	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											56.0	55.0	56.0					5																	82817148		2203	4300	6503	-	-	-	SO:0001583	missense	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.3023A>G	5.37:g.82817148A>G	ENSP00000265077:p.Asp1008Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	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.D1008G	ENST00000265077.3	37	c.3023	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	12.86	2.065472	0.36470	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.87491	-2.11;-2.24;-2.26	5.98	4.82	0.62117	.	0.501362	0.19907	N	0.103384	T	0.81341	0.4802	L	0.47716	1.5	0.32405	N	0.551431	P;P	0.39282	0.465;0.666	B;B	0.35039	0.178;0.194	T	0.82934	-0.0211	10	0.45353	T	0.12	.	10.0846	0.42410	0.9244:0.0:0.0756:0.0	.	1008;1008	P13611-3;P13611	.;CSPG2_HUMAN	G	1008;1008;960	ENSP00000265077:D1008G;ENSP00000342768:D1008G;ENSP00000425959:D960G	ENSP00000265077:D1008G	D	+	2	0	VCAN	82852904	0.986000	0.35501	0.825000	0.32803	0.699000	0.40488	4.160000	0.58164	1.079000	0.41038	0.482000	0.46254	GAT	VCAN	-	NULL	ENSG00000038427		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	81	0.00	0	A	NM_004385		82817148	82817148	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	108	21.17	29	SNP	0.994	G
VCP	7415	genome.wustl.edu	37	9	35057429	35057429	+	Silent	SNP	C	C	T			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr9:35057429C>T	ENST00000358901.6	-	16	3154	c.2259G>A	c.(2257-2259)cgG>cgA	p.R753R		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	753					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.R753R(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTCATACTTCCGAATGTCAT	0.507																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											269.0	271.0	270.0					9																	35057429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.2259G>A	9.37:g.35057429C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48	p.R753	ENST00000358901.6	37	c.2259	CCDS6573.1	9																																																																																			VCP	-	pfam_Vps4_C,tigrfam_ATPase_AAA_CDC48	ENSG00000165280		0.507	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	27	0.00	0	C	NM_007126		35057429	35057429	-1	no_errors	ENST00000358901	ensembl	human	known	69_37n	silent	54	20.59	14	SNP	1.000	T
VPS37B	79720	genome.wustl.edu	37	12	123355506	123355506	+	Missense_Mutation	SNP	G	G	C	rs139458326	byFrequency	TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr12:123355506G>C	ENST00000267202.2	-	2	595	c.214C>G	c.(214-216)Cgc>Ggc	p.R72G		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	72	Interaction with IST1.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)		p.R72G(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGGGTCAAGCGTGCTTTCAAC	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											132.0	130.0	131.0					12																	123355506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.214C>G	12.37:g.123355506G>C	ENSP00000267202:p.Arg72Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Mod_r	p.R72G	ENST00000267202.2	37	c.214	CCDS9239.1	12	.	.	.	.	.	.	.	.	.	.	G	8.132	0.783264	0.16189	.	.	ENSG00000139722	ENST00000267202;ENST00000535765;ENST00000371248	T;T;T	0.77229	-1.08;-1.08;-1.08	5.39	2.13	0.27403	Modifier of rudimentary, Modr (1);	0.625324	0.17130	N	0.185868	T	0.66733	0.2819	L	0.47190	1.495	0.09310	N	1	B	0.22346	0.068	B	0.26517	0.07	T	0.52704	-0.8540	10	0.28530	T	0.3	-0.3289	4.9783	0.14151	0.2271:0.0:0.2618:0.5111	.	72	Q9H9H4	VP37B_HUMAN	G	72;70;70	ENSP00000267202:R72G;ENSP00000446075:R70G;ENSP00000360294:R70G	ENSP00000267202:R72G	R	-	1	0	VPS37B	121921459	0.012000	0.17670	0.000000	0.03702	0.676000	0.39594	1.725000	0.38074	0.165000	0.19558	0.585000	0.79938	CGC	VPS37B	-	pfam_Mod_r	ENSG00000139722		0.443	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37B	HGNC	protein_coding	OTTHUMT00000400946.1	114	0.00	0	G	NM_024667		123355506	123355506	-1	no_errors	ENST00000267202	ensembl	human	known	69_37n	missense	120	39.50	79	SNP	0.000	C
ZCCHC14	23174	genome.wustl.edu	37	16	87452476	87452476	+	Silent	SNP	A	A	G			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr16:87452476A>G	ENST00000268616.4	-	7	883	c.666T>C	c.(664-666)ggT>ggC	p.G222G		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	222							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.G222G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCATCACGGTACCTACTTTAG	0.318																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											56.0	48.0	50.0					16																	87452476		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.666T>C	16.37:g.87452476A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_Znf_CCHC,pfam_SAM_type1,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Y106H	ENST00000268616.4	37	c.316	CCDS10961.1	16																																																																																			ZCCHC14	-	superfamily_Phox	ENSG00000140948		0.318	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	78	0.00	0	A	NM_015144		87452476	87452476	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561928	ensembl	human	known	69_37n	missense	79	26.85	29	SNP	0.001	G
ZFHX4	79776	genome.wustl.edu	37	8	77764150	77764150	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr8:77764150T>A	ENST00000521891.2	+	10	5441	c.4993T>A	c.(4993-4995)Tta>Ata	p.L1665I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1620I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1639I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1620I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1620	Gln-rich.				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)	p.L1665I(1)		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)			AGATACCCATTTAGATGCCAA	0.448										HNSCC(33;0.089)																												dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	87.0	87.0					8																	77764150		1936	4135	6071	-	-	-	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.4993T>A	8.37:g.77764150T>A	ENSP00000430497:p.Leu1665Ile	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.L1665I	ENST00000521891.2	37	c.4993	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644909	0.29246	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49720	0.77;0.82;0.79;0.79	4.41	3.25	0.37280	.	0.000000	0.35151	U	0.003404	T	0.29028	0.0721	L	0.36672	1.1	0.31618	N	0.650671	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.15867	-1.0422	10	0.16420	T	0.52	.	2.6068	0.04880	0.1473:0.0826:0.1528:0.6173	.	1620;1620;1665	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	1665;1665;1620;1620;1639	ENSP00000430497:L1665I;ENSP00000399605:L1620I;ENSP00000050961:L1620I;ENSP00000430848:L1639I	ENSP00000050961:L1620I	L	+	1	2	ZFHX4	77926705	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.502000	0.35704	0.846000	0.35142	0.443000	0.29094	TTA	ZFHX4	-	NULL	ENSG00000091656		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	63	0.00	0	T	NM_024721		77764150	77764150	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	117	25.79	41	SNP	1.000	A
ZNF268	10795	genome.wustl.edu	37	12	133780735	133780737	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	ACT	ACT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr12:133780735_133780737delACT	ENST00000536435.2	+	6	2793_2795	c.2463_2465delACT	c.(2461-2466)tcacta>tca	p.L823del	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_In_Frame_Del_p.L662del|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_In_Frame_Del_p.L823del	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	823					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)	p.L823delL(1)		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)		TTTGGAAATCACTACTCATTGTA	0.394																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	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.2463_2465delACT	12.37:g.133780738_133780740delACT	ENSP00000444412:p.Leu823del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDG8|Q96RH4|Q9BZJ9	In_Frame_Del	DEL	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.L823in_frame_del	ENST00000536435.2	37	c.2463_2465	CCDS45012.1	12																																																																																			ZNF268	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000090612		0.394	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	96	0.00	0	ACT	NM_152943		133780735	133780737	+1	no_errors	ENST00000228289	ensembl	human	known	69_37n	in_frame_del	96	20.33	25	DEL	0.001:0.000:0.000	-
ZNF469	84627	genome.wustl.edu	37	16	88505654	88505654	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr16:88505654G>A	ENST00000437464.1	+	2	11692	c.11692G>A	c.(11692-11694)Gag>Aag	p.E3898K	ZNF469_ENST00000565624.1_Missense_Mutation_p.E3926K	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3898					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.E3898K(1)		breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCGGACGGCCGAGGCCCAGAG	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											19.0	28.0	25.0					16																	88505654		692	1589	2281	-	-	-	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.11692G>A	16.37:g.88505654G>A	ENSP00000402343:p.Glu3898Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E3898K	ENST00000437464.1	37	c.11692	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078625	0.55753	.	.	ENSG00000225614	ENST00000437464	T	0.21031	2.03	4.98	4.98	0.66077	.	.	.	.	.	T	0.34279	0.0892	L	0.29908	0.895	0.29897	N	0.824754	D	0.89917	1.0	D	0.68039	0.955	T	0.14643	-1.0465	9	0.59425	D	0.04	-3.4444	15.3945	0.74781	0.0:0.0:1.0:0.0	.	3898	Q96JG9	ZN469_HUMAN	K	3898	ENSP00000402343:E3898K	ENSP00000402343:E3898K	E	+	1	0	ZNF469	87033155	1.000000	0.71417	0.801000	0.32222	0.584000	0.36387	6.993000	0.76245	2.314000	0.78098	0.555000	0.69702	GAG	ZNF469	-	NULL	ENSG00000225614		0.602	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		27	0.00	0	G	NG_012236		88505654	88505654	+1	no_errors	ENST00000437464	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	0.993	A
ZNF91	7644	genome.wustl.edu	37	19	23545146	23545146	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr19:23545146C>G	ENST00000300619.7	-	4	840	c.635G>C	c.(634-636)tGt>tCt	p.C212S	ZNF91_ENST00000397082.2_Missense_Mutation_p.C180S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	212					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.C212S(1)|p.C212Y(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTCTTTACATTTACAGGA	0.323																																						dbGAP											2	Substitution - Missense(2)	ovary(1)|breast(1)											72.0	76.0	75.0					19																	23545146		2124	4266	6390	-	-	-	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.635G>C	19.37:g.23545146C>G	ENSP00000300619:p.Cys212Ser	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.C212S	ENST00000300619.7	37	c.635	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	8.177	0.792904	0.16327	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.39997	1.05;1.05	1.64	0.469	0.16741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65123	0.2661	H	0.98333	4.205	0.18873	N	0.999988	D;D	0.69078	0.997;0.996	P;P	0.51895	0.683;0.484	T	0.58747	-0.7582	9	0.87932	D	0	.	5.6078	0.17389	0.0:0.7926:0.0:0.2074	.	180;212	Q05481-2;Q05481	.;ZNF91_HUMAN	S	212;180	ENSP00000300619:C212S;ENSP00000380272:C180S	ENSP00000300619:C212S	C	-	2	0	ZNF91	23336986	0.992000	0.36948	0.005000	0.12908	0.009000	0.06853	4.975000	0.63777	0.008000	0.14787	0.174000	0.16983	TGT	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.323	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	220	0.00	0	C	NM_003430		23545146	23545146	-1	no_errors	ENST00000300619	ensembl	human	known	69_37n	missense	129	29.89	55	SNP	0.394	G
ZNF585A	199704	genome.wustl.edu	37	19	37643072	37643072	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YG-01A-21D-A10G-09	TCGA-A2-A0YG-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bf82035c-9cd1-4355-acdd-8a007708e976	d2825bbf-6083-40da-bd62-f6e7c0cb0204	g.chr19:37643072G>A	ENST00000356958.4	-	5	1987	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.P522S|ZNF585A_ENST00000392157.2_Missense_Mutation_p.P522S|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	577					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.P522S(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)			CATACATAGGGTTTCTCTCCT	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											35.0	36.0	36.0					19																	37643072		2199	4279	6478	-	-	-	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.1729C>T	19.37:g.37643072G>A	ENSP00000349440:p.Pro577Ser	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.P577S	ENST00000356958.4	37	c.1729		19	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768596	0.69878	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.16743	2.32;2.32;2.32	3.07	3.07	0.35406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37095	N	0.002255	T	0.40196	0.1107	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41161	-0.9524	9	0.59425	D	0.04	.	13.3597	0.60648	0.0:0.0:1.0:0.0	.	577	Q6P3V2	Z585A_HUMAN	S	577;522;522	ENSP00000349440:P577S;ENSP00000292841:P522S;ENSP00000375998:P522S	ENSP00000292841:P522S	P	-	1	0	ZNF585A	42334912	1.000000	0.71417	0.974000	0.42286	0.903000	0.53119	5.597000	0.67577	1.711000	0.51337	0.655000	0.94253	CCC	ZNF585A	-	pfscan_Znf_C2H2	ENSG00000196967		0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	100	0.00	0	G	NM_152655		37643072	37643072	-1	no_errors	ENST00000356958	ensembl	human	known	69_37n	missense	79	24.76	26	SNP	1.000	A
