#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-CO2	4513	genome.wustl.edu	37	M	7609	7609	+	Silent	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrM:7609T>C	ENST00000361739.1	+	1	24	c.24T>C	c.(22-24)ggT>ggC	p.G8G	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TA_ENST00000387392.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	8					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						GCGCAAGTAGGTCTACAAGAC	0.368																																							0											0																																										SO:0001819	synonymous_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.24T>C	M.37:g.7609T>C			Q37526	Silent	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.G8	ENST00000361739.1	37	c.24		MT																																																																																			0	pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom		0.368	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	protein_coding		874	3	0.11	0.00	1	0	T	YP_003024029	0	0		7609	1	no_errors	ENST00000361739	ensembl	human	known	74_37	silent	1337	3	38.31	40.00	834	2	SNP	NULL	C
KAL1	3730	genome.wustl.edu	37	X	8522068	8522068	+	Missense_Mutation	SNP	G	G	A	rs371623420		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:8522068G>A	ENST00000262648.3	-	9	1428	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	427	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TCCAGCGGGCGAGTGGGTCGT	0.413																																							0											0								G	CYS/ARG	0,3835		0,0,0,1632,571	123.0	112.0	116.0		1279	4.4	0.2	X		116	1,6727		0,0,1,2428,1871	no	missense	KAL1	NM_000216.2	180	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging	427/681	8522068	1,10562	2203	4300	6503	SO:0001583	missense	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1279C>T	X.37:g.8522068G>A	ENSP00000262648:p.Arg427Cys		B2RPF8	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core	p.R427C	ENST00000262648.3	37	c.1279	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806140	0.70682	0.0	1.49E-4	ENSG00000011201	ENST00000262648	T	0.75589	-0.95	4.37	4.37	0.52481	Fibronectin, type III (2);	0.117374	0.64402	D	0.000016	T	0.79764	0.4502	M	0.63428	1.95	0.46901	D	0.99924	D	0.69078	0.997	P	0.55112	0.769	T	0.81854	-0.0741	10	0.56958	D	0.05	-16.543	13.6161	0.62108	0.0:0.0:1.0:0.0	.	427	P23352	KALM_HUMAN	C	427	ENSP00000262648:R427C	ENSP00000262648:R427C	R	-	1	0	KAL1	8482068	1.000000	0.71417	0.179000	0.23059	0.896000	0.52359	3.225000	0.51246	1.774000	0.52232	0.544000	0.68410	CGC	0	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	protein_coding	OTTHUMT00000055692.1	71	209	0	0.00	0	0	G	NM_000216	rs371623420	G->A		8522068	-1	no_errors	ENST00000262648	ensembl	human	known	74_37	missense	60	159	36.17	34.02	34	82	SNP	0.898	A
WWC3	55841	genome.wustl.edu	37	X	10062288	10062288	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:10062288C>T	ENST00000380861.4	+	7	1015	c.624C>T	c.(622-624)tgC>tgT	p.C208C	WWC3_ENST00000454666.1_Silent_p.C208C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	208					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCAGTTCTGCGATGCCGGCT	0.592																																							0											0													95.0	86.0	89.0					X																	10062288		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.624C>T	X.37:g.10062288C>T			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	superfamily_C2_dom	p.C208	ENST00000380861.4	37	c.624	CCDS14136.1	X																																																																																			0	NULL		0.592	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	protein_coding	OTTHUMT00000055725.1	63	85	0	0.00	0	0	C	NM_015691	0	0		10062288	1	no_errors	ENST00000380861	ensembl	human	known	74_37	silent	31	77	24.39	31.86	10	36	SNP	0.726	T
WWC3	55841	genome.wustl.edu	37	X	10104702	10104702	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:10104702G>A	ENST00000380861.4	+	20	3184	c.2793G>A	c.(2791-2793)acG>acA	p.T931T	WWC3_ENST00000454666.1_Silent_p.T931T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	931					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACAGTTCAACGCTGCCCCGGA	0.443																																							0											0													121.0	96.0	104.0					X																	10104702		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2793G>A	X.37:g.10104702G>A			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	superfamily_C2_dom	p.T931	ENST00000380861.4	37	c.2793	CCDS14136.1	X																																																																																			0	NULL		0.443	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	protein_coding	OTTHUMT00000055725.1	66	254	0	0.39	0	1	G	NM_015691	0	0		10104702	1	no_errors	ENST00000380861	ensembl	human	known	74_37	silent	53	185	30.26	25.10	23	62	SNP	0.002	A
REPS2	9185	genome.wustl.edu	37	X	17080625	17080625	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:17080625T>A	ENST00000357277.3	+	9	1350	c.1179T>A	c.(1177-1179)aaT>aaA	p.N393K	REPS2_ENST00000303843.7_Missense_Mutation_p.N392K|REPS2_ENST00000380064.4_Missense_Mutation_p.N253K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	393					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TGCCGGCAAATCAACAACCTC	0.358																																							0											0													128.0	109.0	115.0					X																	17080625		2203	4300	6503	SO:0001583	missense	0			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1179T>A	X.37:g.17080625T>A	ENSP00000349824:p.Asn393Lys		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.N393K	ENST00000357277.3	37	c.1179	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943159	0.34283	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.29917	1.57;1.56;1.55	5.62	2.89	0.33648	.	0.382493	0.26013	N	0.026873	T	0.20740	0.0499	L	0.54323	1.7	0.27987	N	0.935807	B;B;B	0.29716	0.047;0.034;0.255	B;B;B	0.21708	0.036;0.019;0.026	T	0.29912	-0.9996	10	0.07030	T	0.85	-1.8763	7.1382	0.25541	0.0:0.6184:0.0:0.3816	.	253;392;393	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	K	393;393;392;253	ENSP00000349824:N393K;ENSP00000306033:N392K;ENSP00000369404:N253K	ENSP00000306033:N392K	N	+	3	2	REPS2	16990546	0.995000	0.38212	0.517000	0.27799	0.912000	0.54170	0.585000	0.23879	0.176000	0.19873	-0.488000	0.04728	AAT	0	NULL		0.358	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	protein_coding	OTTHUMT00000316778.1	133	251	0	0.00	0	0	T	NM_004726	0	0		17080625	1	no_errors	ENST00000357277	ensembl	human	known	74_37	missense	71	169	36.84	38.10	42	104	SNP	0.717	A
SCML2	10389	genome.wustl.edu	37	X	18257808	18257808	+	3'UTR	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:18257808T>G	ENST00000251900.4	-	0	3825				SCML2_ENST00000491988.1_5'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)						anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCATTTCCTCTTCAAAGTTCT	0.378																																					Esophageal Squamous(100;1252 1965 19021 35517)		0											0																																										SO:0001624	3_prime_UTR_variant	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.*1563A>C	X.37:g.18257808T>G			Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	RNA	SNP	0	NULL	ENST00000251900.4	37	NULL	CCDS14185.1	X																																																																																			0	0		0.378	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	protein_coding	OTTHUMT00000055941.1	140	224	0	0.00	0	0	T	NM_006089	0	0		18257808	-1	no_errors	ENST00000491988	ensembl	human	known	74_37	rna	74	185	32.11	26.00	35	65	SNP	0	G
PDHA1	5160	genome.wustl.edu	37	X	19362139	19362139	+	5'UTR	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:19362139G>A	ENST00000422285.2	+	0	89				PDHA1_ENST00000379805.3_5'UTR|PDHA1_ENST00000545074.1_5'UTR|PDHA1_ENST00000540249.1_5'UTR|PDHA1_ENST00000379806.5_5'UTR			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1						acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CGCCGCTGCCGCCACTGCCTG	0.701																																							0											0													21.0	18.0	19.0					X																	19362139		2186	4257	6443	SO:0001623	5_prime_UTR_variant	0				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.-17G>A	X.37:g.19362139G>A			A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	RNA	SNP	0	NULL	ENST00000422285.2	37	NULL	CCDS14192.1	X																																																																																			0	0		0.701	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDHA1	protein_coding	OTTHUMT00000055977.1	10	23	0	0.00	0	0	G		0	0		19362139	1	no_errors	ENST00000492364	ensembl	human	known	74_37	rna	6	24	45.45	25.00	5	8	SNP	0.023	A
PHEX	5251	genome.wustl.edu	37	X	22051242	22051242	+	Splice_Site	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:22051242G>A	ENST00000379374.4	+	1	683		c.e1+1		PHEX_ENST00000537599.1_Splice_Site	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked						bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTCTTTCTAGGTAAGTGGAGT	0.522																																							0											0			GRCh37	CS984057	PHEX	S							178.0	134.0	149.0					X																	22051242		2203	4300	6503	SO:0001630	splice_region_variant	0			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.118+1G>A	X.37:g.22051242G>A			O00678|Q13646|Q2M325|Q93032|Q99827	Splice_Site	SNP	0	e1+1	ENST00000379374.4	37	c.118+1	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833665	0.50951	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7287	0.85430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHEX	21961163	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	6.032000	0.70918	2.325000	0.78763	0.594000	0.82650	.	0	0		0.522	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	protein_coding	OTTHUMT00000056035.1	12	240	0	0.00	0	0	G	NM_000444	0	0	Intron	22051242	1	no_errors	ENST00000379374	ensembl	human	known	74_37	splice_site	2	172	50	31.20	2	78	SNP	1	A
MAGEB10	139422	genome.wustl.edu	37	X	27840014	27840014	+	Silent	SNP	C	C	T	rs374712101		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:27840014C>T	ENST00000356790.2	+	3	836	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	197	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ATGAAACAGGCGTGCCCAAGA	0.468																																							0											0								C		1,3832		0,1,1630,571	83.0	68.0	73.0		591	-5.2	0.0	X		73	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEB10	NM_182506.3		0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095		197/348	27840014	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.591C>T	X.37:g.27840014C>T			Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G197	ENST00000356790.2	37	c.591	CCDS35221.1	X																																																																																			0	pfam_MAGE,pfscan_MAGE		0.468	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	protein_coding	OTTHUMT00000106216.1	30	202	0	0.49	0	1	C	NM_182506	rs374712101	C->T		27840014	1	no_errors	ENST00000356790	ensembl	human	known	74_37	silent	15	134	37.5	35.27	9	73	SNP	0	T
NR0B1	190	genome.wustl.edu	37	X	30326504	30326504	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:30326504C>T	ENST00000378970.4	-	1	1211	c.977G>A	c.(976-978)cGg>cAg	p.R326Q	NR0B1_ENST00000378963.1_Missense_Mutation_p.R31Q|NR0B1_ENST00000453287.1_Missense_Mutation_p.R326Q	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	326	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCCGGTCTCCCGCCGCCTGGT	0.672											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													20.0	15.0	17.0					X																	30326504		2199	4296	6495	SO:0001583	missense	0			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.977G>A	X.37:g.30326504C>T	ENSP00000368253:p.Arg326Gln	816	Q96F69	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.R326Q	ENST00000378970.4	37	c.977	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	C	7.582	0.668946	0.14776	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	D;D;D	0.98602	-5.02;-1.79;-5.02	5.07	0.0769	0.14405	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.512302	0.20970	N	0.082402	D	0.91734	0.7386	N	0.22421	0.69	0.25458	N	0.98795	B	0.33000	0.393	B	0.19946	0.027	D	0.85992	0.1489	10	0.09843	T	0.71	-3.0479	5.7231	0.17998	0.1337:0.3523:0.0:0.5141	.	326	P51843	NR0B1_HUMAN	Q	326;31;326	ENSP00000368253:R326Q;ENSP00000368246:R31Q;ENSP00000396403:R326Q	ENSP00000368246:R31Q	R	-	2	0	NR0B1	30236425	0.887000	0.30362	0.922000	0.36590	0.608000	0.37181	0.122000	0.15687	-0.339000	0.08401	-0.192000	0.12808	CGG	0	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.672	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	protein_coding	OTTHUMT00000056161.1	55	68	0	0.00	0	0	C	NM_000475	0	0		30326504	-1	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	29	66	29.27	24.14	12	21	SNP	0.786	T
DMD	1756	genome.wustl.edu	37	X	32834701	32834701	+	Missense_Mutation	SNP	C	C	A	rs398123949		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:32834701C>A	ENST00000357033.4	-	6	620	c.414G>T	c.(412-414)aaG>aaT	p.K138N	DMD_ENST00000288447.4_Missense_Mutation_p.K130N|DMD_ENST00000378677.2_Missense_Mutation_p.K134N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	138	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGGAGAATCTTTTCACTGT	0.393																																							0											0													170.0	147.0	155.0					X																	32834701		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.414G>T	X.37:g.32834701C>A	ENSP00000354923:p.Lys138Asn		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.K138N	ENST00000357033.4	37	c.414	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001670	0.93227	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95918	-3.85;-3.85;-3.85	5.44	5.44	0.79542	Calponin homology domain (5);	0.000000	0.38778	U	0.001577	D	0.97498	0.9181	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.999;0.999;0.994;0.999	P;D;P;P;D	0.65874	0.8;0.912;0.898;0.866;0.939	D	0.98136	1.0433	10	0.72032	D	0.01	.	18.3299	0.90264	0.0:1.0:0.0:0.0	.	138;130;130;138;134	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	N	130;134;138;138;15;130	ENSP00000367948:K134N;ENSP00000354923:K138N;ENSP00000288447:K130N	ENSP00000288447:K130N	K	-	3	2	DMD	32744622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.960000	0.63673	2.269000	0.75478	0.600000	0.82982	AAG	0	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	103	225	0	0.00	0	0	C	NM_004006	0	0		32834701	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	52	237	20	27.66	13	91	SNP	1	A
BCOR	54880	genome.wustl.edu	37	X	39934419	39934419	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:39934419C>T	ENST00000378444.4	-	4	408	c.180G>A	c.(178-180)acG>acA	p.T60T	BCOR_ENST00000397354.3_Silent_p.T60T|BCOR_ENST00000342274.4_Silent_p.T60T|BCOR_ENST00000378455.4_Silent_p.T60T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	60					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTATGGGCCGTGCTCGCAT	0.562			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																0		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													23.0	17.0	19.0					X																	39934419		2201	4295	6496	SO:0001819	synonymous_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.180G>A	X.37:g.39934419C>T			D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T60	ENST00000378444.4	37	c.180	CCDS48093.1	X																																																																																			0	NULL		0.562	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	19	153	0	0.00	0	0	C	NM_017745	0	0		39934419	-1	no_errors	ENST00000378444	ensembl	human	known	74_37	silent	4	142	42.86	24.87	3	47	SNP	0.012	T
MED14	9282	genome.wustl.edu	37	X	40572273	40572273	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:40572273C>T	ENST00000324817.1	-	6	792	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R225H(2)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCAACACGAAACTTCAC	0.403																																							0											2	Substitution - Missense(2)	prostate(2)											95.0	77.0	83.0					X																	40572273		2203	4300	6503	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.674G>A	X.37:g.40572273C>T	ENSP00000323720:p.Arg225His		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.R225H	ENST00000324817.1	37	c.674	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302966	0.60195	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	N	0.01576	-0.805	0.80722	D	1	P	0.35272	0.493	B	0.32724	0.151	T	0.32241	-0.9914	9	0.35671	T	0.21	.	18.0248	0.89265	0.0:1.0:0.0:0.0	.	225	O60244	MED14_HUMAN	H	225	.	ENSP00000323720:R225H	R	-	2	0	MED14	40457217	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.397000	0.79903	2.279000	0.76181	0.538000	0.68166	CGT	0	pfam_Mediator_Med14		0.403	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	113	291	0	0.00	0	0	C	NM_004229	0	0		40572273	-1	no_errors	ENST00000324817	ensembl	human	known	74_37	missense	64	225	26.44	29.69	23	95	SNP	1	T
TBC1D25	4943	genome.wustl.edu	37	X	48419277	48419277	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:48419277C>T	ENST00000376771.4	+	6	2322	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.R407C	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	661					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GCGCGTCCTGCGCCGGGCTAG	0.592																																							0											0													37.0	36.0	37.0					X																	48419277		2202	4300	6502	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1981C>T	X.37:g.48419277C>T	ENSP00000365962:p.Arg661Cys		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R661C	ENST00000376771.4	37	c.1981	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529508	0.44969	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.24723	1.84;1.84	5.33	5.33	0.75918	Rab-GAP/TBC domain (1);	0.308590	0.30260	N	0.010025	T	0.19485	0.0468	N	0.08118	0	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.997;0.993	P;P;B	0.47299	0.543;0.543;0.446	T	0.09228	-1.0684	10	0.62326	D	0.03	-18.7921	15.4149	0.74960	0.0:1.0:0.0:0.0	.	665;603;661	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	C	661;407	ENSP00000365962:R661C;ENSP00000444091:R407C	ENSP00000365962:R661C	R	+	1	0	TBC1D25	48304221	1.000000	0.71417	0.946000	0.38457	0.071000	0.16799	7.236000	0.78154	2.233000	0.73108	0.529000	0.55759	CGC	0	superfamily_Rab-GTPase-TBC_dom		0.592	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	protein_coding	OTTHUMT00000060764.2	17	65	0	0.00	0	0	C	NM_002536	0	0		48419277	1	no_errors	ENST00000376771	ensembl	human	known	74_37	missense	15	78	16.67	34.17	3	41	SNP	1	T
GRIPAP1	56850	genome.wustl.edu	37	X	48840261	48840261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:48840261G>A	ENST00000376441.1	-	15	1232	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Nonsense_Mutation_p.R347*|GRIPAP1_ENST00000376425.3_Nonsense_Mutation_p.R369*|GRIPAP1_ENST00000376444.3_Nonsense_Mutation_p.R355*	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	400						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TCCAGCAGTCGACTATTGGCC	0.502																																							0											0													203.0	154.0	171.0					X																	48840261		2203	4300	6503	SO:0001587	stop_gained	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1198C>T	X.37:g.48840261G>A	ENSP00000365624:p.Arg400*		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.R400*	ENST00000376441.1	37	c.1198	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	-	22.4	4.286537	0.80803	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	.	.	.	4.93	4.93	0.64822	.	0.084638	0.47852	D	0.000210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.0646	16.113	0.81275	0.0:0.0:1.0:0.0	.	.	.	.	X	369;355;400;369;347	.	ENSP00000365606:R347X	R	-	1	2	GRIPAP1	48725205	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	4.884000	0.63135	2.054000	0.61138	0.522000	0.50473	CGA	0	NULL		0.502	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	protein_coding	OTTHUMT00000080970.2	70	289	0	0.34	0	1	G	NM_207672	0	0		48840261	-1	no_errors	ENST00000376441	ensembl	human	known	74_37	nonsense	47	189	21.67	31.27	13	86	SNP	1	A
PRAF2	11230	genome.wustl.edu	37	X	48931616	48931616	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:48931616C>T	ENST00000376390.4	-	1	114	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000376386.3_Missense_Mutation_p.A11T|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000465431.1_5'Flank	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	11					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						TCGTCCAGGGCGCGTAGCGGT	0.657																																							0											0													39.0	33.0	35.0					X																	48931616		2198	4298	6496	SO:0001583	missense	0			BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.31G>A	X.37:g.48931616C>T	ENSP00000365570:p.Ala11Thr		B2RD20	Missense_Mutation	SNP	pfam_Prenylated_rab_accept_PRA1	p.A11T	ENST00000376390.4	37	c.31	CCDS14317.1	X	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533300	0.45073	.	.	ENSG00000243279	ENST00000376390;ENST00000376386	T;T	0.41758	0.99;0.99	3.92	3.05	0.35203	.	0.241239	0.32002	N	0.006736	T	0.15349	0.0370	N	0.03608	-0.345	0.80722	D	1	P	0.39535	0.677	B	0.31614	0.133	T	0.05937	-1.0855	10	0.25106	T	0.35	-17.4007	8.6902	0.34262	0.0:0.8848:0.0:0.1152	.	11	O60831	PRAF2_HUMAN	T	11	ENSP00000365570:A11T;ENSP00000365566:A11T	ENSP00000365566:A11T	A	-	1	0	PRAF2	48818560	0.001000	0.12720	1.000000	0.80357	0.890000	0.51754	-0.407000	0.07178	1.002000	0.39104	-0.208000	0.12717	GCC	0	pfam_Prenylated_rab_accept_PRA1		0.657	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAF2	protein_coding	OTTHUMT00000083415.2	46	40	0	0.00	0	0	C	NM_007213	0	0		48931616	-1	no_errors	ENST00000376390	ensembl	human	known	74_37	missense	21	22	25	31.25	7	10	SNP	0.951	T
CCNB3	85417	genome.wustl.edu	37	X	50055546	50055546	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:50055546C>T	ENST00000376042.1	+	7	3635	c.3337C>T	c.(3337-3339)Cgg>Tgg	p.R1113W	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.R1113W			Q8WWL7	CCNB3_HUMAN	cyclin B3	1113					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATAACCCCACGGGAAGATAT	0.388																																							0											0													160.0	145.0	150.0					X																	50055546		2203	4300	6503	SO:0001583	missense	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3337C>T	X.37:g.50055546C>T	ENSP00000365210:p.Arg1113Trp		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.R1113W	ENST00000376042.1	37	c.3337	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	C	5.325	0.245293	0.10077	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.18338	2.22;2.22	4.72	-3.7	0.04437	.	11.198600	0.00166	N	0.000007	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.20940	-1.0260	9	.	.	.	.	4.277	0.10813	0.0917:0.4702:0.1678:0.2703	.	1113;1113	A8K8T9;Q8WWL7	.;CCNB3_HUMAN	W	1113	ENSP00000365210:R1113W;ENSP00000276014:R1113W	.	R	+	1	2	CCNB3	50072286	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.379000	0.07437	-1.193000	0.02688	-1.747000	0.00681	CGG	0	NULL		0.388	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	protein_coding	OTTHUMT00000056558.1	72	220	0	0.45	0	1	C		0	0		50055546	1	no_errors	ENST00000276014	ensembl	human	known	74_37	missense	24	185	26.47	30.45	9	81	SNP	0	T
SHROOM4	57477	genome.wustl.edu	37	X	50438919	50438919	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:50438919C>T	ENST00000289292.7	-	2	419	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A46T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	46	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACAAAGCTGCCTTGCCTCCA	0.468																																							0											0													91.0	77.0	82.0					X																	50438919		2203	4300	6503	SO:0001583	missense	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.136G>A	X.37:g.50438919C>T	ENSP00000289292:p.Ala46Thr		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A46T	ENST00000289292.7	37	c.136	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829856	0.71258	.	.	ENSG00000158352	ENST00000289292;ENST00000376020	T;T	0.37752	1.18;1.18	5.4	5.4	0.78164	PDZ/DHR/GLGF (4);	0.183522	0.32640	N	0.005824	T	0.73791	0.3632	H	0.97465	4.01	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.83854	0.0264	10	0.87932	D	0	.	15.7052	0.77573	0.0:1.0:0.0:0.0	.	46	Q9ULL8	SHRM4_HUMAN	T	46	ENSP00000289292:A46T;ENSP00000365188:A46T	ENSP00000289292:A46T	A	-	1	0	SHROOM4	50455659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.035000	0.76517	2.394000	0.81467	0.544000	0.68410	GCA	0	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.468	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	24	172	0	0.00	0	0	C	NM_020717	0	0		50438919	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	missense	12	107	29.41	29.61	5	45	SNP	1	T
FAM155B	27112	genome.wustl.edu	37	X	68725182	68725182	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:68725182C>T	ENST00000252338.4	+	1	99	c.57C>T	c.(55-57)tgC>tgT	p.C19C	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	19	Poly-Cys.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TGACTATctgctgctgctgct	0.682																																							0											0													6.0	4.0	5.0					X																	68725182		1935	3692	5627	SO:0001819	synonymous_variant	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.57C>T	X.37:g.68725182C>T			B1ALV6|B9EGK1|D3DVU1	Silent	SNP	NULL	p.C19	ENST00000252338.4	37	c.57	CCDS35317.1	X																																																																																			0	NULL		0.682	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	protein_coding	OTTHUMT00000057037.1	23	28	0	0.00	0	0	C	NM_015686	0	0		68725182	1	no_errors	ENST00000252338	ensembl	human	known	74_37	silent	9	24	30.77	11.11	4	3	SNP	1	T
KIF4A	24137	genome.wustl.edu	37	X	69510595	69510595	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:69510595A>G	ENST00000374403.3	+	3	257	c.175A>G	c.(175-177)Act>Gct	p.T59A	PDZD11_ENST00000374454.1_5'Flank|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000485406.1_3'UTR|PDZD11_ENST00000239666.4_5'Flank|KIF4A_ENST00000374388.3_Missense_Mutation_p.T59A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGATCCCTCTACTGAACAGGA	0.408																																							0											0													124.0	96.0	106.0					X																	69510595		2203	4300	6503	SO:0001583	missense	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.175A>G	X.37:g.69510595A>G	ENSP00000363524:p.Thr59Ala		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T59A	ENST00000374403.3	37	c.175	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	a	11.59	1.685232	0.29872	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.71103	-0.54;-0.54	5.64	2.02	0.26589	Kinesin, motor domain (4);	0.309004	0.28504	N	0.015108	T	0.42017	0.1184	N	0.03948	-0.315	0.32776	N	0.503163	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.36138	-0.9760	10	0.33141	T	0.24	.	6.9014	0.24285	0.6327:0.0:0.3673:0.0	.	59;59	O95239;O95239-2	KIF4A_HUMAN;.	A	59	ENSP00000363509:T59A;ENSP00000363524:T59A	ENSP00000363509:T59A	T	+	1	0	KIF4A	69427320	1.000000	0.71417	0.920000	0.36463	0.995000	0.86356	3.389000	0.52516	0.397000	0.25310	0.483000	0.47432	ACT	0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.408	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	protein_coding	OTTHUMT00000057068.1	77	193	0	0.00	0	0	A	NM_012310	0	0		69510595	1	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	35	174	16.67	15.46	7	32	SNP	0.934	G
GDPD2	54857	genome.wustl.edu	37	X	69644872	69644872	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:69644872G>A	ENST00000374382.3	+	2	289	c.38G>A	c.(37-39)cGc>cAc	p.R13H	GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000453994.2_Missense_Mutation_p.R13H|GDPD2_ENST00000538649.1_Intron	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	13					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GTCTGGGCCCGCTGCCTCCAC	0.642																																							0											0													19.0	14.0	16.0					X																	69644872		2201	4291	6492	SO:0001583	missense	0			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.38G>A	X.37:g.69644872G>A	ENSP00000363503:p.Arg13His		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.R13H	ENST00000374382.3	37	c.38	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995159	0.54147	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.22945	1.93;2.53	5.77	2.75	0.32379	.	0.546985	0.19196	N	0.120318	T	0.13415	0.0325	N	0.24115	0.695	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.001	T	0.11542	-1.0583	9	.	.	.	-3.4584	4.6354	0.12521	0.2175:0.267:0.5155:0.0	.	13;13	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	H	13	ENSP00000414019:R13H;ENSP00000363503:R13H	.	R	+	2	0	GDPD2	69561597	0.705000	0.27846	1.000000	0.80357	0.998000	0.95712	-0.229000	0.09098	0.514000	0.28300	0.600000	0.82982	CGC	0	NULL		0.642	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	protein_coding	OTTHUMT00000057070.1	84	71	0	0.00	0	0	G	NM_017711	0	0		69644872	1	no_errors	ENST00000453994	ensembl	human	known	74_37	missense	48	43	30.43	34.85	21	23	SNP	1	A
TSIX	9383	genome.wustl.edu	37	X	73047136	73047136	+	lincRNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:73047136G>A	ENST00000604411.1	+	0	35097				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ACACACACACGTACACTTGCC	0.458																																							0											0													136.0	121.0	126.0					X																	73047136		876	1991	2867			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047136G>A				RNA	SNP	0	NULL	ENST00000604411.1	37	NULL		X																																																																																			0	0		0.458	TSIX-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000469120.1	33	138	0	0.72	0	1	G	NR_003255	0	0		73047136	-1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	12	90	60	27.42	18	34	SNP	0	A
ATRX	546	genome.wustl.edu	37	X	76762796	76762796	+	3'UTR	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:76762796A>G	ENST00000373344.5	-	0	8726				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_3'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CACAATACTGATAGTACTGGG	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																0		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*1033T>C	X.37:g.76762796A>G			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	0	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			0	0		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	145	144	0	0.00	0	0	A	NM_000489	0	0		76762796	-1	no_errors	ENST00000480283	ensembl	human	known	74_37	rna	81	121	25	25.77	27	42	SNP	1	G
HDX	139324	genome.wustl.edu	37	X	83724352	83724352	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:83724352C>T	ENST00000297977.5	-	3	490	c.379G>A	c.(379-381)Gac>Aac	p.D127N	HDX_ENST00000506585.2_Missense_Mutation_p.D69N|HDX_ENST00000373177.2_Missense_Mutation_p.D127N	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	127						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTTGTGTGTCTGTATGTTTG	0.388																																					Pancreas(53;231 1169 36156 43751 51139)		0											0													293.0	240.0	258.0					X																	83724352		2203	4300	6503	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.379G>A	X.37:g.83724352C>T	ENSP00000297977:p.Asp127Asn		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D127N	ENST00000297977.5	37	c.379	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.999514	0.00435	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.38887	1.61;1.67;1.61;1.11	4.75	2.33	0.28932	.	0.482216	0.22548	N	0.058635	T	0.12050	0.0293	N	0.01188	-0.97	0.22292	N	0.999221	B	0.02656	0.0	B	0.01281	0.0	T	0.35599	-0.9782	10	0.02654	T	1	-32.2333	7.7655	0.28978	0.0:0.1887:0.0:0.8113	.	127	Q7Z353	HDX_HUMAN	N	127;69;127;69	ENSP00000297977:D127N;ENSP00000362272:D69N;ENSP00000423670:D127N;ENSP00000387790:D69N	ENSP00000297977:D127N	D	-	1	0	HDX	83611008	1.000000	0.71417	0.657000	0.29651	0.427000	0.31564	1.878000	0.39608	0.248000	0.21435	-0.503000	0.04515	GAC	0	NULL		0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	protein_coding	OTTHUMT00000057379.2	102	274	0	0.36	0	1	C	NM_144657	0	0		83724352	-1	no_errors	ENST00000297977	ensembl	human	known	74_37	missense	54	222	32.5	23.97	26	70	SNP	0.858	T
RNF128	79589	genome.wustl.edu	37	X	105970576	105970576	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:105970576A>G	ENST00000255499.2	+	1	683	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	145	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGGAGCCGTCATCTTTAACTT	0.602																																							0											0													54.0	51.0	52.0					X																	105970576		2203	4300	6503	SO:0001583	missense	0			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.433A>G	X.37:g.105970576A>G	ENSP00000255499:p.Ile145Val		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I145V	ENST00000255499.2	37	c.433	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	A	6.167	0.398921	0.11696	.	.	ENSG00000133135	ENST00000255499	T	0.06608	3.28	4.29	3.12	0.35913	Protease-associated domain, PA (1);	0.220104	0.40302	N	0.001134	T	0.03608	0.0103	N	0.21142	0.635	0.43632	D	0.996022	B	0.21225	0.053	B	0.26864	0.074	T	0.28459	-1.0043	10	0.05620	T	0.96	.	6.4258	0.21768	0.8825:0.0:0.1175:0.0	.	145	Q8TEB7	RN128_HUMAN	V	145	ENSP00000255499:I145V	ENSP00000255499:I145V	I	+	1	0	RNF128	105857232	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	1.901000	0.39838	1.534000	0.49203	0.486000	0.48141	ATC	0	pfam_Protease-assoc_domain		0.602	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	protein_coding	OTTHUMT00000057804.1	61	113	0	0.00	0	0	A	NM_024539	0	0		105970576	1	no_errors	ENST00000255499	ensembl	human	known	74_37	missense	22	91	54.17	34.06	26	47	SNP	1	G
IRS4	8471	genome.wustl.edu	37	X	107979451	107979451	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:107979451C>T	ENST00000372129.2	-	1	200	c.124G>A	c.(124-126)Gca>Aca	p.A42T	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	42					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCAATGAGTGCGGTCGGGGTT	0.652																																							0											0													25.0	27.0	26.0					X																	107979451		2198	4285	6483	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.124G>A	X.37:g.107979451C>T	ENSP00000361202:p.Ala42Thr			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A42T	ENST00000372129.2	37	c.124	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	c	16.28	3.077889	0.55753	.	.	ENSG00000133124	ENST00000372129	T	0.40756	1.02	3.24	3.24	0.37175	.	0.229512	0.22366	N	0.061012	T	0.27663	0.0680	N	0.08118	0	0.30086	N	0.808773	D	0.61080	0.989	P	0.46917	0.531	T	0.19031	-1.0318	10	0.66056	D	0.02	-0.9367	11.4508	0.50151	0.0:1.0:0.0:0.0	.	42	O14654	IRS4_HUMAN	T	42	ENSP00000361202:A42T	ENSP00000361202:A42T	A	-	1	0	IRS4	107866107	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.160000	0.50739	1.905000	0.55150	0.431000	0.28591	GCA	0	NULL		0.652	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	protein_coding	OTTHUMT00000057879.1	50	43	0	0.00	0	0	C	NM_003604	0	0		107979451	-1	no_errors	ENST00000372129	ensembl	human	known	74_37	missense	25	32	35.9	36.00	14	18	SNP	1	T
RBMXL3	139804	genome.wustl.edu	37	X	114425993	114425993	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:114425993C>T	ENST00000424776.3	+	1	2031	c.1989C>T	c.(1987-1989)taC>taT	p.Y663Y	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	663	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						GCAACTGCTACGGAGGAGGAG	0.647																																							0											0													54.0	53.0	53.0					X																	114425993		692	1591	2283	SO:0001819	synonymous_variant	0			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1989C>T	X.37:g.114425993C>T			B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y663	ENST00000424776.3	37	c.1989	CCDS55478.1	X																																																																																			0	NULL		0.647	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	protein_coding	OTTHUMT00000057968.3	93	51	0	0.00	0	0	C	NM_001145346	0	0		114425993	1	no_errors	ENST00000424776	ensembl	human	known	74_37	silent	54	21	29.87	25.00	23	7	SNP	0.041	T
IL13RA1	3597	genome.wustl.edu	37	X	117904509	117904509	+	Intron	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:117904509G>A	ENST00000371666.3	+	9	1076				IL13RA1_ENST00000371637.3_Silent_p.A94A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1						cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GTGTGGATGCGCATGGCAGCG	0.622																																							0											0																																										SO:0001627	intron_variant	0			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1010-3333G>A	X.37:g.117904509G>A			O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	NULL	p.A94	ENST00000371666.3	37	c.282	CCDS14573.1	X																																																																																			0	NULL		0.622	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	protein_coding	OTTHUMT00000058009.1	49	71	0	0.00	0	0	G	NM_001560	0	0		117904509	1	no_errors	ENST00000371637	ensembl	human	known	74_37	silent	30	67	25	20.24	10	17	SNP	0.977	A
KIAA1210	57481	genome.wustl.edu	37	X	118217055	118217055	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:118217055G>A	ENST00000402510.2	-	13	4876	c.4877C>T	c.(4876-4878)cCt>cTt	p.P1626L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1626										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CATCTTTTTAGGTTGGTTTTC	0.388																																							0											0													205.0	173.0	183.0					X																	118217055		1881	4098	5979	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4877C>T	X.37:g.118217055G>A	ENSP00000384670:p.Pro1626Leu		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.P1626L	ENST00000402510.2	37	c.4877	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588721	0.46110	.	.	ENSG00000250423	ENST00000402510	T	0.10860	2.83	5.07	1.99	0.26369	.	.	.	.	.	T	0.11367	0.0277	M	0.64997	1.995	0.09310	N	1	B	0.32829	0.386	B	0.30646	0.118	T	0.21314	-1.0249	9	0.56958	D	0.05	.	5.6931	0.17841	0.1015:0.0:0.498:0.4005	.	1626	Q9ULL0	K1210_HUMAN	L	1626	ENSP00000384670:P1626L	ENSP00000384670:P1626L	P	-	2	0	RP13-347D8.6	118101083	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.255000	0.18333	0.068000	0.16574	0.513000	0.50165	CCT	0	NULL		0.388	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	protein_coding	OTTHUMT00000371251.2	54	210	0	0.47	0	1	G	NM_020721	0	0		118217055	-1	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	35	167	30	27.39	15	63	SNP	0	A
ARHGAP36	158763	genome.wustl.edu	37	X	130215768	130215768	+	Silent	SNP	C	C	T	rs150725005	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:130215768C>T	ENST00000276211.5	+	2	474	c.129C>T	c.(127-129)ccC>ccT	p.P43P	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Silent_p.P31P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	43					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GACACAACCCCGACCGCAGGA	0.552																																							0											0													158.0	128.0	138.0					X																	130215768		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.129C>T	X.37:g.130215768C>T			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P43	ENST00000276211.5	37	c.129	CCDS14628.1	X																																																																																			0	NULL		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	protein_coding	OTTHUMT00000355073.1	52	162	0	0.00	0	0	C	NM_144967	0	0		130215768	1	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	13	126	43.48	26.74	10	46	SNP	0.007	T
FAM127A	8933	genome.wustl.edu	37	X	134166467	134166467	+	Silent	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134166467T>C	ENST00000257013.7	+	1	135	c.54T>C	c.(52-54)ccT>ccC	p.P18P	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CGATCCGGCCTGCGACGCGTC	0.642																																							0											0													74.0	77.0	76.0					X																	134166467		2110	4171	6281	SO:0001819	synonymous_variant	0			Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.54T>C	X.37:g.134166467T>C			Q6IBF1	Silent	SNP	NULL	p.P18	ENST00000257013.7	37	c.54	CCDS43997.1	X																																																																																			0	NULL		0.642	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM127A	protein_coding	OTTHUMT00000058391.2	63	27	0	0.00	0	0	T	NM_001078171	0	0		134166467	1	no_errors	ENST00000257013	ensembl	human	novel	74_37	silent	63	44	7.35	6.38	5	3	SNP	0	C
FAM127A	8933	genome.wustl.edu	37	X	134166471	134166471	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134166471A>G	ENST00000257013.7	+	1	139	c.58A>G	c.(58-60)Acg>Gcg	p.T20A	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCGGCCTGCGACGCGTCGCTG	0.642																																							0											0													74.0	77.0	76.0					X																	134166471		2107	4177	6284	SO:0001583	missense	0			Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.58A>G	X.37:g.134166471A>G	ENSP00000257013:p.Thr20Ala		Q6IBF1	Missense_Mutation	SNP	NULL	p.T20A	ENST00000257013.7	37	c.58	CCDS43997.1	X	.	.	.	.	.	.	.	.	.	.	a	0.333	-0.955060	0.02285	.	.	ENSG00000134590	ENST00000257013	T	0.26373	1.74	3.8	-7.6	0.01303	.	.	.	.	.	T	0.05777	0.0151	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18053	-1.0349	9	0.02654	T	1	.	8.8178	0.35007	0.1218:0.2897:0.5885:0.0	.	20	A6ZKI3	F127A_HUMAN	A	20	ENSP00000257013:T20A	ENSP00000257013:T20A	T	+	1	0	FAM127A	133994137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.133000	0.03232	-3.211000	0.00214	-2.252000	0.00282	ACG	0	NULL		0.642	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM127A	protein_coding	OTTHUMT00000058391.2	63	27	0	0.00	0	0	A	NM_001078171	0	0		134166471	1	no_errors	ENST00000257013	ensembl	human	novel	74_37	missense	64	45	7.25	6.25	5	3	SNP	0	G
FAM127B	26071	genome.wustl.edu	37	X	134185997	134185997	+	Missense_Mutation	SNP	A	A	C	rs2498776	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134185997A>C	ENST00000370775.2	-	1	208	c.142T>G	c.(142-144)Tgc>Ggc	p.C48G	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	48			S -> C (in dbSNP:rs2498776). {ECO:0000269|PubMed:15489334}.					p.S48C(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					ATGTAGGAGCTCGTCTGCACG	0.637																																							0											1	Substitution - Missense(1)	stomach(1)											83.0	89.0	87.0					X																	134185997		2135	4223	6358	SO:0001583	missense	0			AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.142T>G	X.37:g.134185997A>C	ENSP00000375267:p.Cys48Gly		A2A2V9|Q8TBU2	Missense_Mutation	SNP	NULL	p.S48G	ENST00000370775.2	37	c.142	CCDS43998.1	X																																																																																			0	NULL		0.637	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	101	42	0	0.00	0	0	A	NM_001078172	0	0		134185997	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	missense	60	32	16.67	11.11	12	4	SNP	0.998	C
FAM127B	26071	genome.wustl.edu	37	X	134186034	134186034	+	Silent	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134186034T>G	ENST00000370775.2	-	1	171	c.105A>C	c.(103-105)ggA>ggC	p.G35G	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	35										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					GGTCGGTATCTCCGTCAAACG	0.637																																							0											0													94.0	98.0	96.0					X																	134186034		2100	4195	6295	SO:0001819	synonymous_variant	0			AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.105A>C	X.37:g.134186034T>G			A2A2V9|Q8TBU2	Silent	SNP	NULL	p.G35	ENST00000370775.2	37	c.105	CCDS43998.1	X																																																																																			0	NULL		0.637	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	95	50	0	0.00	0	0	T	NM_001078172	0	0		134186034	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	silent	59	40	15.71	18.37	11	9	SNP	0.942	G
FAM127B	26071	genome.wustl.edu	37	X	134186094	134186094	+	Silent	SNP	G	G	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134186094G>C	ENST00000370775.2	-	1	111	c.45C>G	c.(43-45)ccC>ccG	p.P15P	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	15										breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					CGGGCCGGAGGGGCCCGGCCA	0.687																																							0											0													52.0	57.0	56.0					X																	134186094		1931	4095	6026	SO:0001819	synonymous_variant	0			AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.45C>G	X.37:g.134186094G>C			A2A2V9|Q8TBU2	Silent	SNP	NULL	p.P15	ENST00000370775.2	37	c.45	CCDS43998.1	X																																																																																			0	NULL		0.687	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	48	54	0	0.00	0	0	G	NM_001078172	0	0		134186094	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	silent	36	35	23.4	25.53	11	12	SNP	0.002	C
FAM127B	26071	genome.wustl.edu	37	X	134186098	134186099	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:134186098_134186099CC>AA	ENST00000370775.2	-	1	106_107	c.40_41GG>TT	c.(40-42)GGg>TTg	p.G14L	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	14								p.G14V(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					CCGGAGGGGCCCGGCCAGGAGG	0.693																																							0											1	Substitution - Missense(1)	lung(1)																																								SO:0001583	missense	0			AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.40_41delinsAA	X.37:g.134186098_134186099delinsAA	ENSP00000375267:p.Gly14Leu		A2A2V9|Q8TBU2	Missense_Mutation	SNP	NULL	p.G14V|p.G14W	ENST00000370775.2	37	c.41|c.40	CCDS43998.1	X																																																																																			0	NULL		0.693	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	protein_coding	OTTHUMT00000058393.2	45|44	53	0	0.00	0	0	C	NM_001078172	0	0		134186098|134186099	-1	no_errors	ENST00000370775	ensembl	human	known	74_37	missense	34	34	24.44	26.09	11	12	SNP	0.003|0	A
CDR1	1038	genome.wustl.edu	37	X	139865788	139865788	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:139865788C>G	ENST00000370532.2	-	1	935	c.744G>C	c.(742-744)aaG>aaC	p.K248N		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	248										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAATCCAGGTCTTCCAGTCAA	0.428																																							0											0													102.0	101.0	101.0					X																	139865788		2203	4300	6503	SO:0001583	missense	0				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.744G>C	X.37:g.139865788C>G	ENSP00000359563:p.Lys248Asn		Q5JXH6	Missense_Mutation	SNP	NULL	p.K248N	ENST00000370532.2	37	c.744	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694424	0.48202	.	.	ENSG00000184258	ENST00000370532	.	.	.	3.82	2.95	0.34219	.	.	.	.	.	T	0.34687	0.0906	N	0.08118	0	0.24839	N	0.992474	D	0.76494	0.999	D	0.72075	0.976	T	0.17289	-1.0374	7	.	.	.	.	8.9625	0.35856	0.0:0.8795:0.0:0.1205	.	248	P51861	CDR1_HUMAN	N	248	.	.	K	-	3	2	CDR1	139693454	0.034000	0.19679	0.116000	0.21606	0.002000	0.02628	0.099000	0.15210	0.733000	0.32492	-0.273000	0.10243	AAG	0	NULL		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	protein_coding	OTTHUMT00000058583.1	147	65	0	0.00	0	0	C	NM_004065	0	0		139865788	-1	no_errors	ENST00000370532	ensembl	human	known	74_37	missense	78	50	27.1	23.08	29	15	SNP	0.997	G
ZFP92	139735	genome.wustl.edu	37	X	152686347	152686347	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:152686347G>A	ENST00000338647.5	+	4	513	c.512G>A	c.(511-513)cGc>cAc	p.R171H	U82695.10_ENST00000569962.1_lincRNA	NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						ATCAAGCACCGCATCATCCAC	0.672																																							0											0													48.0	52.0	51.0					X																	152686347		692	1591	2283	SO:0001583	missense	0			U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.512G>A	X.37:g.152686347G>A	ENSP00000462054:p.Arg171His			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.R171H	ENST00000338647.5	37	c.512	CCDS59177.1	X																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP92	protein_coding	OTTHUMT00000332220.2	23	104	0	0.00	0	0	G		0	0		152686347	1	no_errors	ENST00000338647	ensembl	human	known	74_37	missense	12	69	42.86	23.33	9	21	SNP	0	A
MPP1	4354	genome.wustl.edu	37	X	154033630	154033630	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:154033630C>T	ENST00000369534.3	-	1	166	c.19G>A	c.(19-21)Gag>Aag	p.E7K	MPP1_ENST00000413259.3_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.E7K	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	7					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCTCGCCCTCGCTCGCCTTG	0.662																																							0											0													34.0	26.0	29.0					X																	154033630		2203	4298	6501	SO:0001583	missense	0				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.19G>A	X.37:g.154033630C>T	ENSP00000358547:p.Glu7Lys		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E7K	ENST00000369534.3	37	c.19	CCDS14762.1	X	.	.	.	.	.	.	.	.	.	.	c	11.20	1.569780	0.28003	.	.	ENSG00000130830	ENST00000369534;ENST00000393531;ENST00000453245;ENST00000428488;ENST00000369531	T;T;T;T	0.41400	2.29;2.15;1.0;1.94	4.63	3.74	0.42951	.	0.257576	0.37530	N	0.002049	T	0.16300	0.0392	N	0.11927	0.2	0.80722	D	1	B;P;B;B	0.38711	0.0;0.643;0.005;0.003	B;B;B;B	0.24974	0.0;0.057;0.002;0.001	T	0.08680	-1.0710	10	0.10902	T	0.67	.	8.464	0.32944	0.0:0.668:0.332:0.0	.	7;7;7;7	B4E325;C9J9J4;G3XAI1;Q00013	.;.;.;EM55_HUMAN	K	7	ENSP00000358547:E7K;ENSP00000377165:E7K;ENSP00000410888:E7K;ENSP00000358544:E7K	ENSP00000358544:E7K	E	-	1	0	MPP1	153686824	1.000000	0.71417	0.907000	0.35723	0.164000	0.22412	1.454000	0.35178	1.890000	0.54733	0.529000	0.55759	GAG	0	NULL		0.662	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP1	protein_coding	OTTHUMT00000061191.3	49	53	0	0.00	0	0	C	NM_002436	0	0		154033630	-1	no_errors	ENST00000369534	ensembl	human	known	74_37	missense	18	33	50	34.62	18	18	SNP	0.986	T
PERM1	84808	genome.wustl.edu	37	1	914707	914707	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:914707G>A	ENST00000341290.2	-	3	1396	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	C1orf170_ENST00000433179.2_Missense_Mutation_p.T474M			Q5SV97	PERM1_HUMAN		568					regulation of transcription, DNA-templated (GO:0006355)|response to muscle activity (GO:0014850)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCGACCCTCGTCACGGCAGA	0.701																																							0											0																																										SO:0001583	missense	0																														ENST00000341290.2:c.1361C>T	1.37:g.914707G>A	ENSP00000343864:p.Thr454Met		Q6ZVZ7|Q9BRF2|S5G239	Missense_Mutation	SNP	NULL	p.T474M	ENST00000341290.2	37	c.1421		1	.	.	.	.	.	.	.	.	.	.	.	3.266	-0.150195	0.06585	.	.	ENSG00000187642	ENST00000433179;ENST00000341290	T	0.45276	0.9	5.13	-10.3	0.00346	.	1.531100	0.04592	N	0.397018	T	0.21307	0.0513	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.13150	-1.0520	9	0.40728	T	0.16	0.4831	2.0822	0.03637	0.36:0.2907:0.2129:0.1364	.	474	Q5SV97	CA170_HUMAN	M	474;454	ENSP00000414022:T474M	ENSP00000343864:T454M	T	-	2	0	C1orf170	904570	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.236000	0.01201	-3.058000	0.00257	-2.142000	0.00338	ACG	0	NULL		0.701	C1orf170-001	PUTATIVE	basic|appris_candidate	protein_coding	C1orf170	protein_coding	OTTHUMT00000097943.2	50	41	0	0.00	0	0	G		0	0		914707	-1	no_errors	ENST00000433179	ensembl	human	known	74_37	missense	27	22	30.77	37.14	12	13	SNP	0	A
TTLL10	254173	genome.wustl.edu	37	1	1111634	1111634	+	Intron	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:1111634G>T	ENST00000379290.1	+	3	146				TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGCTGTGCAGGTGGAGAGAG	0.667																																							0											0																																										SO:0001627	intron_variant	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.-28+1765G>T	1.37:g.1111634G>T			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	SNP	0	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			0	0		0.667	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	protein_coding	OTTHUMT00000002421.3	78	6	0	0.00	0	0	G	NM_153254	0	0		1111634	-1	no_errors	ENST00000379317	ensembl	human	known	74_37	rna	45	4	25	50.00	15	4	SNP	0.973	T
SLC45A1	50651	genome.wustl.edu	37	1	8385928	8385928	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:8385928G>A	ENST00000471889.1	+	4	926	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A215T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A181T|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	181					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CATTGGCATCGCCCTGGCTGA	0.612																																							0											0													96.0	87.0	90.0					1																	8385928		2203	4300	6503	SO:0001583	missense	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.541G>A	1.37:g.8385928G>A	ENSP00000418096:p.Ala181Thr		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A215T	ENST00000471889.1	37	c.643	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745332	0.69418	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.95656	-3.77;-3.77;-3.77	5.26	5.26	0.73747	Major facilitator superfamily domain, general substrate transporter (1);	0.103006	0.64402	D	0.000003	D	0.95755	0.8619	M	0.73217	2.22	0.51482	D	0.999929	D	0.59357	0.985	P	0.51999	0.687	D	0.94818	0.7984	10	0.39692	T	0.17	-38.4453	12.9135	0.58192	0.0:0.0:0.8379:0.1621	.	181	Q9Y2W3	S45A1_HUMAN	T	181;215;181	ENSP00000418096:A181T;ENSP00000366699:A215T;ENSP00000289877:A181T	ENSP00000289877:A181T	A	+	1	0	SLC45A1	8308515	1.000000	0.71417	0.920000	0.36463	0.187000	0.23431	5.507000	0.66999	2.447000	0.82792	0.655000	0.94253	GCC	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.612	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	protein_coding	OTTHUMT00000001245.5	43	80	0	0.00	0	0	G		0	0		8385928	1	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	16	75	44.83	24.75	13	25	SNP	0.983	A
SLC45A1	50651	genome.wustl.edu	37	1	8386016	8386016	+	Missense_Mutation	SNP	C	C	T	rs150539474		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:8386016C>T	ENST00000471889.1	+	4	1014	c.629C>T	c.(628-630)gCg>gTg	p.A210V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A244V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A210V|Y_RNA_ENST00000516445.1_RNA			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	210					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGACTCGGCGGACAACCCC	0.652																																							0											0								C	VAL/ALA	0,4406		0,0,2203	94.0	86.0	89.0		629	4.4	0.2	1	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC45A1	NM_001080397.1	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	210/749	8386016	2,13004	2203	4300	6503	SO:0001583	missense	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.629C>T	1.37:g.8386016C>T	ENSP00000418096:p.Ala210Val		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A244V	ENST00000471889.1	37	c.731	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566651	0.28003	0.0	2.33E-4	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.92911	-3.13;-3.13;-3.13	5.32	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90971	0.7161	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86632	0.1886	10	0.02654	T	1	-23.2589	14.3838	0.66929	0.149:0.851:0.0:0.0	.	210	Q9Y2W3	S45A1_HUMAN	V	210;244;210	ENSP00000418096:A210V;ENSP00000366699:A244V;ENSP00000289877:A210V	ENSP00000289877:A210V	A	+	2	0	SLC45A1	8308603	1.000000	0.71417	0.151000	0.22473	0.082000	0.17680	5.971000	0.70440	1.213000	0.43380	-0.181000	0.13052	GCG	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	protein_coding	OTTHUMT00000001245.5	47	86	0	0.00	0	0	C		rs150539474	C->T		8386016	1	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	37	69	27.45	32.35	14	33	SNP	0.973	T
SLC2A7	155184	genome.wustl.edu	37	1	9085042	9085042	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:9085042G>A	ENST00000400906.1	-	2	142	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	48					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		caccttgtgcGGCGTGTTGAC	0.657																																							0											0													52.0	52.0	52.0					1																	9085042		2203	4300	6503	SO:0001583	missense	0			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.143C>T	1.37:g.9085042G>A	ENSP00000383698:p.Pro48Leu		A2A333	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.P48L	ENST00000400906.1	37	c.143	CCDS98.2	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931568	0.52866	.	.	ENSG00000197241	ENST00000400906	T	0.74002	-0.8	4.33	2.45	0.29901	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.215597	0.39210	N	0.001430	D	0.88797	0.6534	H	0.96604	3.85	0.41585	D	0.988768	D	0.89917	1.0	D	0.91635	0.999	D	0.87858	0.2662	10	0.87932	D	0	.	7.9757	0.30153	0.1833:0.0:0.8167:0.0	.	48	Q6PXP3	GTR7_HUMAN	L	48	ENSP00000383698:P48L	ENSP00000383698:P48L	P	-	2	0	SLC2A7	9007629	1.000000	0.71417	0.049000	0.19019	0.569000	0.35902	5.202000	0.65169	0.466000	0.27193	0.462000	0.41574	CCG	0	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.657	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A7	protein_coding	OTTHUMT00000127768.3	79	71	1.25	0.00	1	0	G	NM_207420	0	0		9085042	-1	no_errors	ENST00000400906	ensembl	human	known	74_37	missense	56	67	22.22	36.19	16	38	SNP	0.588	A
PGD	5226	genome.wustl.edu	37	1	10477498	10477498	+	Silent	SNP	C	C	T	rs530138934		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:10477498C>T	ENST00000270776.8	+	10	1079	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	PGD_ENST00000538557.1_Silent_p.T334T|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.T325T	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	347					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	AGGCAGCCACCGAGTTTGGCT	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21778	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													142.0	137.0	139.0					1																	10477498		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1041C>T	1.37:g.10477498C>T			A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.T347	ENST00000270776.8	37	c.1041	CCDS113.1	1																																																																																			0	pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox		0.537	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	protein_coding	OTTHUMT00000005398.1	33	50	0	0.00	0	0	C	NM_002631	rs530138934	C->T		10477498	1	no_errors	ENST00000270776	ensembl	human	known	74_37	silent	20	68	39.39	26.88	13	25	SNP	0.27	T
MTOR	2475	genome.wustl.edu	37	1	11169741	11169741	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:11169741G>A	ENST00000361445.4	-	55	7488	c.7412C>T	c.(7411-7413)aCg>aTg	p.T2471M	MTOR_ENST00000376838.1_Missense_Mutation_p.T676M	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2471	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGTGGTCCCCGTTTTCTTATG	0.418																																							0											0													124.0	121.0	122.0					1																	11169741		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7412C>T	1.37:g.11169741G>A	ENSP00000354558:p.Thr2471Met		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T2471M	ENST00000361445.4	37	c.7412	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057108	0.55325	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	T;T;T	0.23348	3.13;2.88;1.91	5.84	4.93	0.64822	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.152541	0.64402	D	0.000014	T	0.15565	0.0375	N	0.12746	0.255	0.36505	D	0.869212	B	0.15141	0.012	B	0.10450	0.005	T	0.09143	-1.0688	10	0.40728	T	0.16	-12.8915	12.3036	0.54889	0.0775:0.0:0.9225:0.0	.	2471	P42345	MTOR_HUMAN	M	2471;676;127	ENSP00000354558:T2471M;ENSP00000366034:T676M;ENSP00000398745:T127M	ENSP00000354558:T2471M	T	-	2	0	MTOR	11092328	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	9.182000	0.94881	1.483000	0.48342	0.655000	0.94253	ACG	0	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.418	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	protein_coding	OTTHUMT00000005558.1	86	206	0	0.00	0	0	G	NM_004958	0	0		11169741	-1	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	29	199	34.09	29.18	15	82	SNP	0.997	A
C1orf167	284498	genome.wustl.edu	37	1	11836644	11836644	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:11836644G>A	ENST00000433342.1	+	10	2360	c.2360G>A	c.(2359-2361)tGc>tAc	p.C787Y	RP11-56N19.5_ENST00000376620.3_RNA|C1orf167_ENST00000484153.1_3'UTR			Q5SNV9	CA167_HUMAN	chromosome 1 open reading frame 167	787										central_nervous_system(1)	1						CTGGCCCTCTGCTGGGCGCTG	0.697																																							0											0																																										SO:0001583	missense	0			AL834308		1p36.22	2012-04-20			ENSG00000215910	ENSG00000215910			25262	protein-coding gene	gene with protein product						12370778	Standard	XM_006710065		Approved	DKFZp434E1410, RP11-56N19.2	uc001asy.1	Q5SNV9	OTTHUMG00000002228	ENST00000433342.1:c.2360G>A	1.37:g.11836644G>A	ENSP00000414909:p.Cys787Tyr		Q8NDA9|Q8NDF3	Missense_Mutation	SNP	NULL	p.C787Y	ENST00000433342.1	37	c.2360		1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.492815	0.01009	.	.	ENSG00000215910	ENST00000433342	T	0.05025	3.51	4.65	-4.72	0.03269	.	.	.	.	.	T	0.02455	0.0075	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46665	-0.9175	9	0.15952	T	0.53	5.7655	1.7965	0.03062	0.3512:0.1485:0.3561:0.1443	.	787	Q5SNV9	CA167_HUMAN	Y	787	ENSP00000414909:C787Y	ENSP00000414909:C787Y	C	+	2	0	C1orf167	11759231	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.450000	0.06803	-1.055000	0.03209	-1.056000	0.02311	TGC	0	NULL		0.697	C1orf167-201	KNOWN	basic|appris_principal	protein_coding	C1orf167	protein_coding		31	46	0	0.00	0	0	G		0	0		11836644	1	no_errors	ENST00000433342	ensembl	human	known	74_37	missense	22	44	15.38	27.87	4	17	SNP	0	A
CLCNKA	1187	genome.wustl.edu	37	1	16355778	16355778	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:16355778T>G	ENST00000331433.4	+	12	1230	c.1211T>G	c.(1210-1212)tTc>tGc	p.F404C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.F404C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.F361C|CLCNKA_ENST00000375692.1_Missense_Mutation_p.F404C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	404					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACCCTTGCCTTCTTCCTGGTT	0.662																																							0											0													72.0	75.0	74.0					1																	16355778		2203	4300	6503	SO:0001583	missense	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1211T>G	1.37:g.16355778T>G	ENSP00000332771:p.Phe404Cys		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.F404C	ENST00000331433.4	37	c.1211	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.340602	0.41498	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	3.2	3.2	0.36748	Chloride channel, core (2);	0.159995	0.56097	D	0.000035	D	0.92283	0.7552	M	0.63428	1.95	0.51767	D	0.999934	P;P;P	0.36733	0.567;0.567;0.567	B;B;B	0.38500	0.275;0.275;0.275	D	0.91478	0.5202	10	0.56958	D	0.05	.	9.6261	0.39752	0.0:0.0:0.0:1.0	.	361;404;404	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	C	404;404;361;404	ENSP00000364844:F404C;ENSP00000410353:F404C;ENSP00000414445:F361C;ENSP00000332771:F404C	ENSP00000332771:F404C	F	+	2	0	CLCNKA	16228365	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.634000	0.54302	1.458000	0.47871	0.260000	0.18958	TTC	0	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	protein_coding	OTTHUMT00000026326.1	57	199	0	0.00	0	0	T		0	0		16355778	1	no_errors	ENST00000331433	ensembl	human	known	74_37	missense	39	161	17.02	4.71	8	8	SNP	1	G
SDHB	6390	genome.wustl.edu	37	1	17354321	17354321	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:17354321G>A	ENST00000375499.3	-	5	613	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	155					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	TTCAAATAAGGCTCAATGGAT	0.403			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														0	yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""		O	0													130.0	120.0	123.0					1																	17354321		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.463C>T	1.37:g.17354321G>A	ENSP00000364649:p.Pro155Ser		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S	p.P155S	ENST00000375499.3	37	c.463	CCDS176.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296562	0.81025	.	.	ENSG00000117118	ENST00000375499	D	0.97480	-4.4	5.89	5.89	0.94794	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98991	1.0808	10	0.87932	D	0	-14.8617	18.8118	0.92061	0.0:0.0:1.0:0.0	.	155	P21912	DHSB_HUMAN	S	155	ENSP00000364649:P155S	ENSP00000364649:P155S	P	-	1	0	SDHB	17226908	1.000000	0.71417	0.997000	0.53966	0.382000	0.30200	7.371000	0.79600	2.790000	0.95986	0.655000	0.94253	CCT	0	superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S		0.403	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	protein_coding	OTTHUMT00000006603.1	44	169	0	0.58	0	1	G	NM_003000	0	0		17354321	-1	no_errors	ENST00000375499	ensembl	human	known	74_37	missense	33	138	23.26	33.49	10	70	SNP	1	A
C1QC	714	genome.wustl.edu	37	1	22973773	22973773	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:22973773G>A	ENST00000374639.3	+	3	353	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	C1QC_ENST00000374640.4_Missense_Mutation_p.G79S|C1QC_ENST00000374637.1_Missense_Mutation_p.G79S	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	79	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAGAACCCGGCTTACCCGG	0.647																																					Ovarian(26;671 750 8290 29071 43278)		0											0													30.0	35.0	33.0					1																	22973773		2203	4300	6503	SO:0001583	missense	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.235G>A	1.37:g.22973773G>A	ENSP00000363770:p.Gly79Ser		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G79S	ENST00000374639.3	37	c.235	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446076	0.84101	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	D;D;D	0.99329	-5.75;-5.75;-5.75	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	H	0.97540	4.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97411	1.0002	10	0.87932	D	0	.	16.7212	0.85410	0.0:0.0:1.0:0.0	.	79	P02747	C1QC_HUMAN	S	79	ENSP00000363771:G79S;ENSP00000363770:G79S;ENSP00000363768:G79S	ENSP00000363768:G79S	G	+	1	0	C1QC	22846360	1.000000	0.71417	0.397000	0.26308	0.589000	0.36550	6.778000	0.75043	2.280000	0.76307	0.561000	0.74099	GGC	0	pfam_Collagen		0.647	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	protein_coding	OTTHUMT00000008083.1	46	121	0	0.00	0	0	G	NM_172369	0	0		22973773	1	no_errors	ENST00000374637	ensembl	human	known	74_37	missense	15	105	48.28	28.57	14	42	SNP	0.978	A
LUZP1	7798	genome.wustl.edu	37	1	23420409	23420409	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:23420409G>A	ENST00000302291.4	-	4	1147	c.346C>T	c.(346-348)Cga>Tga	p.R116*	LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R116*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R116*|LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R116*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	116					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAGCCATTCGTTTCTGAAGC	0.473																																							0											0													77.0	86.0	83.0					1																	23420409		2203	4300	6503	SO:0001587	stop_gained	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.346C>T	1.37:g.23420409G>A	ENSP00000303758:p.Arg116*		Q5TH93|Q8N4X3|Q8TEH1	Nonsense_Mutation	SNP	NULL	p.R116*	ENST00000302291.4	37	c.346	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860587	0.91433	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	.	.	.	6.17	5.25	0.73442	.	0.000000	0.40302	N	0.001134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1352	0.59405	0.0:0.0:0.5978:0.4022	.	.	.	.	X	116	.	ENSP00000303758:R116X	R	-	1	2	LUZP1	23292996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.861000	0.39438	1.584000	0.49913	0.655000	0.94253	CGA	0	NULL		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	protein_coding	OTTHUMT00000008900.3	55	221	0	0.00	0	0	G	NM_033631	0	0		23420409	-1	no_errors	ENST00000302291	ensembl	human	known	74_37	nonsense	39	197	27.78	28.10	15	77	SNP	1	A
SRRM1	10250	genome.wustl.edu	37	1	24979467	24979467	+	Silent	SNP	G	G	A	rs142035407		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:24979467G>A	ENST00000323848.9	+	8	1299	c.984G>A	c.(982-984)ccG>ccA	p.P328P	SRRM1_ENST00000537199.1_Silent_p.P197P|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.P323P|SRRM1_ENST00000447431.2_Silent_p.P328P	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	328	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAGAACTCCGCCAAGAAGAA	0.453													G|||	0	0.0	0.0	0.0	5008	,	,		17017	0.0		0.0	False		,,,				2504	0.0				Ovarian(68;897 1494 3282 17478)		1,0											0								G		0,4406		0,0,2203	58.0	55.0	56.0		984	-5.0	0.9	1	dbSNP_134	56	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SRRM1	NM_005839.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		328/905	24979467	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.984G>A	1.37:g.24979467G>A			O60585|Q5VVN4	Silent	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.P328	ENST00000323848.9	37	c.984	CCDS255.1	1																																																																																			0	NULL		0.453	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	protein_coding	OTTHUMT00000009292.2	123	39	0.81	0.00	1	0	G	NM_005839	rs142035407	G->A		24979467	1	no_errors	ENST00000447431	ensembl	human	known	74_37	silent	80	29	25.23	36.96	27	17	SNP	0.702	A
CLIC4	25932	genome.wustl.edu	37	1	25140616	25140616	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:25140616G>A	ENST00000374379.4	+	3	411	c.214G>A	c.(214-216)Ggg>Agg	p.G72R	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	72	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CTTGGCTCCCGGGACCCACCC	0.388																																							0											0													76.0	81.0	80.0					1																	25140616		2203	4300	6503	SO:0001583	missense	0			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.214G>A	1.37:g.25140616G>A	ENSP00000363500:p.Gly72Arg		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.G72R	ENST00000374379.4	37	c.214	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397626	0.83120	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.23147	1.92	5.85	5.85	0.93711	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.55213	1.73	0.52099	D	0.999945	D;P	0.89917	1.0;0.686	D;B	0.87578	0.998;0.138	T	0.38045	-0.9679	10	0.62326	D	0.03	-15.3439	18.9445	0.92616	0.0:0.0:1.0:0.0	.	52;72	B3KTR3;Q9Y696	.;CLIC4_HUMAN	R	72	ENSP00000363500:G72R	ENSP00000363500:G72R	G	+	1	0	CLIC4	25013203	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	9.343000	0.97047	2.768000	0.95171	0.655000	0.94253	GGG	0	superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel		0.388	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	protein_coding	OTTHUMT00000009332.1	90	271	1.09	0.00	1	0	G	NM_013943	0	0		25140616	1	no_errors	ENST00000374379	ensembl	human	known	74_37	missense	41	226	32.79	29.28	20	94	SNP	1	A
RSRP1	57035	genome.wustl.edu	37	1	25573068	25573068	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:25573068C>A	ENST00000243189.7	-	2	663	c.387G>T	c.(385-387)agG>agT	p.R129S	C1orf63_ENST00000417642.2_Missense_Mutation_p.R122S|C1orf63_ENST00000431849.2_Missense_Mutation_p.R129S|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		129	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGCGTACGCCCTTCCGCAGT	0.657																																							0											0													75.0	67.0	69.0					1																	25573068		2203	4300	6503	SO:0001583	missense	0																														ENST00000243189.7:c.387G>T	1.37:g.25573068C>A	ENSP00000243189:p.Arg129Ser		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	NULL	p.R122S	ENST00000243189.7	37	c.366	CCDS260.1	1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845874	0.51164	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849	T;T;T	0.55234	1.24;1.24;0.53	4.21	-1.13	0.09775	.	0.493562	0.16741	N	0.201453	T	0.27278	0.0669	N	0.22421	0.69	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.08576	-1.0715	10	0.20519	T	0.43	-0.1826	1.6621	0.02794	0.1285:0.3741:0.252:0.2453	.	129	Q9BUV0	CA063_HUMAN	S	129;122;129	ENSP00000243189:R129S;ENSP00000411631:R122S;ENSP00000391510:R129S	ENSP00000243189:R129S	R	-	3	2	C1orf63	25445655	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.084000	0.11268	-0.076000	0.12775	-0.304000	0.09214	AGG	0	NULL		0.657	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	protein_coding	OTTHUMT00000101966.2	47	115	0	0.00	0	0	C		0	0		25573068	-1	no_errors	ENST00000417642	ensembl	human	known	74_37	missense	25	99	23.53	29.79	8	42	SNP	0	A
DHDDS	79947	genome.wustl.edu	37	1	26769265	26769265	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:26769265T>A	ENST00000236342.7	+	4	317	c.224T>A	c.(223-225)gTc>gAc	p.V75D	DHDDS_ENST00000374185.3_Missense_Mutation_p.V75D|DHDDS_ENST00000360009.2_Missense_Mutation_p.V75D|DHDDS_ENST00000525682.2_Missense_Mutation_p.V75D|DHDDS_ENST00000526219.1_Missense_Mutation_p.V75D|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000427245.2_Missense_Mutation_p.V75D			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	75					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAGGTGACAGTCTACGCATTC	0.517																																							0											0													172.0	164.0	167.0					1																	26769265		2203	4300	6503	SO:0001583	missense	0			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.224T>A	1.37:g.26769265T>A	ENSP00000236342:p.Val75Asp		B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	p.V75D	ENST00000236342.7	37	c.224	CCDS282.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.136026	0.94517	.	.	ENSG00000117682	ENST00000374190;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000531312;ENST00000525165;ENST00000525546;ENST00000436153;ENST00000430232	T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.997;0.994	D	0.92577	0.6071	10	0.87932	D	0	-12.6427	15.5442	0.76081	0.0:0.0:0.0:1.0	.	75;75;75;75	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.;.;DHDDS_HUMAN;.	D	43;75;75;75;75;75;75;75;75;75;75;75;75	ENSP00000399177:V75D;ENSP00000434984:V75D;ENSP00000236342:V75D;ENSP00000434219:V75D;ENSP00000363300:V75D;ENSP00000353104:V75D;ENSP00000436119:V75D;ENSP00000436764:V75D;ENSP00000434185:V75D;ENSP00000433976:V75D;ENSP00000397584:V75D	ENSP00000236342:V75D	V	+	2	0	DHDDS	26641852	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.956000	0.87863	2.266000	0.75297	0.533000	0.62120	GTC	0	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like		0.517	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	protein_coding	OTTHUMT00000392504.1	51	215	0	0.00	0	0	T	NM_024887	0	0		26769265	1	no_errors	ENST00000360009	ensembl	human	known	74_37	missense	36	173	21.74	30.24	10	75	SNP	1	A
PTPRU	10076	genome.wustl.edu	37	1	29585175	29585175	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:29585175C>T	ENST00000345512.3	+	3	493	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	PTPRU_ENST00000323874.8_Missense_Mutation_p.R122C|PTPRU_ENST00000428026.2_Missense_Mutation_p.R122C|PTPRU_ENST00000373779.3_Missense_Mutation_p.R122C|PTPRU_ENST00000356870.3_Missense_Mutation_p.R122C|PTPRU_ENST00000460170.2_Missense_Mutation_p.R122C	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	122	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R122C(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGTCTACGTGCGCGTTAATGG	0.627																																							0											3	Substitution - Missense(3)	endometrium(3)											90.0	100.0	97.0					1																	29585175		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.364C>T	1.37:g.29585175C>T	ENSP00000334941:p.Arg122Cys		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R122C	ENST00000345512.3	37	c.364	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992332	0.93167	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02631	4.22;4.22;4.22;4.22;4.22;4.22	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.64402	D	0.000001	T	0.16300	0.0392	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.68192	0.927;0.927;0.927;0.956;0.956	T	0.00036	-1.2256	9	.	.	.	.	14.0961	0.65023	0.0:0.926:0.0:0.074	.	122;122;122;122;122	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	C	122	ENSP00000334941:R122C;ENSP00000362884:R122C;ENSP00000349333:R122C;ENSP00000314987:R122C;ENSP00000392332:R122C;ENSP00000432906:R122C	.	R	+	1	0	PTPRU	29457762	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	2.619000	0.46401	2.699000	0.92147	0.591000	0.81541	CGC	0	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	protein_coding	OTTHUMT00000010447.1	21	95	0	0.00	0	0	C		0	0		29585175	1	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	17	68	34.62	20.93	9	18	SNP	1	T
SLC2A1	6513	genome.wustl.edu	37	1	43394959	43394959	+	Silent	SNP	G	G	A	rs140825318		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:43394959G>A	ENST00000426263.3	-	7	1072	c.894C>T	c.(892-894)ttC>ttT	p.F298F	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	298					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCGCCTTCTCGAAGATGCTCG	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16383	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0								G		11,4395	16.8+/-37.8	0,11,2192	45.0	42.0	43.0		894	-0.6	1.0	1	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	SLC2A1	NM_006516.2		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		298/493	43394959	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	0			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.894C>T	1.37:g.43394959G>A			A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.F298	ENST00000426263.3	37	c.894	CCDS477.1	1																																																																																			0	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.567	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	protein_coding	OTTHUMT00000020358.2	38	128	0	0.77	0	1	G	NM_006516	rs140825318	G->A		43394959	-1	no_errors	ENST00000426263	ensembl	human	known	74_37	silent	23	74	28.12	40.80	9	51	SNP	0.996	A
FAM183A	440585	genome.wustl.edu	37	1	43621891	43621891	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:43621891C>T	ENST00000335282.4	+	4	312	c.312C>T	c.(310-312)cgC>cgT	p.R104R	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Silent_p.R76R	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	104										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						ACCCAGAACGCCATGACCGCA	0.507																																							0											0													135.0	132.0	133.0					1																	43621891		1994	4184	6178	SO:0001819	synonymous_variant	0			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.312C>T	1.37:g.43621891C>T			B7ZBL8	Silent	SNP	NULL	p.R76	ENST00000335282.4	37	c.228	CCDS44126.1	1																																																																																			0	NULL		0.507	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM183A	protein_coding	OTTHUMT00000019024.3	42	153	0	0.00	0	0	C	NM_001101376	0	0		43621891	1	no_errors	ENST00000410048	ensembl	human	putative	74_37	silent	24	96	20	31.43	6	44	SNP	0	T
ZFYVE9	9372	genome.wustl.edu	37	1	52761600	52761600	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:52761600G>A	ENST00000371591.1	+	11	3415	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R1036Q|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.R1095Q|ZFYVE9_ENST00000469134.1_3'UTR	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1095					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GTCAGATTTCGGAAGCCATTG	0.368																																							0											0													170.0	156.0	161.0					1																	52761600		2203	4300	6503	SO:0001583	missense	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3284G>A	1.37:g.52761600G>A	ENSP00000360647:p.Arg1095Gln		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.R1095Q	ENST00000371591.1	37	c.3284	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.455383	0.96223	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.68181	-0.17;-0.31;-0.31	4.69	4.69	0.59074	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000002	D	0.83912	0.5357	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.86757	0.1964	10	0.87932	D	0	.	18.2263	0.89918	0.0:0.0:1.0:0.0	.	1036;1095	O95405-2;O95405	.;ZFYV9_HUMAN	Q	1036;1095;1095	ENSP00000349737:R1036Q;ENSP00000287727:R1095Q;ENSP00000360647:R1095Q	ENSP00000287727:R1095Q	R	+	2	0	ZFYVE9	52534188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.607000	0.88179	0.585000	0.79938	CGG	0	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	protein_coding	OTTHUMT00000022083.1	125	165	0.79	0.00	1	0	G	NM_007324	0	0		52761600	1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	81	122	26.36	34.05	29	63	SNP	1	A
CC2D1B	200014	genome.wustl.edu	37	1	52830227	52830227	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:52830227C>A	ENST00000371586.2	-	2	204	c.66G>T	c.(64-66)aaG>aaT	p.K22N	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.K22N	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	22						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TCCATACCTGCTTGGCAGCGG	0.557																																							0											0													44.0	38.0	40.0					1																	52830227		2203	4300	6503	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.66G>T	1.37:g.52830227C>A	ENSP00000360642:p.Lys22Asn		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.K22N	ENST00000371586.2	37	c.66	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139049	0.56936	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371575	T;T	0.24723	1.84;1.84	4.9	2.99	0.34606	.	0.116963	0.56097	D	0.000030	T	0.30135	0.0755	M	0.63843	1.955	0.80722	D	1	P	0.52577	0.954	P	0.46452	0.517	T	0.12967	-1.0527	10	0.72032	D	0.01	-22.7813	9.8132	0.40835	0.0:0.7771:0.0:0.2229	.	22	Q5T0F9	C2D1B_HUMAN	N	22	ENSP00000360642:K22N;ENSP00000284376:K22N	ENSP00000284376:K22N	K	-	3	2	CC2D1B	52602815	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.372000	0.20467	1.297000	0.44761	0.591000	0.81541	AAG	0	NULL		0.557	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	protein_coding	OTTHUMT00000022189.1	55	146	0	0.00	0	0	C	NM_032449	0	0		52830227	-1	no_errors	ENST00000371586	ensembl	human	known	74_37	missense	47	112	14.55	36.00	8	63	SNP	1	A
ECHDC2	55268	genome.wustl.edu	37	1	53373561	53373561	+	Missense_Mutation	SNP	G	G	A	rs200827816		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:53373561G>A	ENST00000371522.4	-	4	436	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	ECHDC2_ENST00000536120.1_Missense_Mutation_p.R69W|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R69W|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R115W	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	115					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATCAGGCCCCGGAGTCGCTGG	0.617																																							0											0													105.0	97.0	99.0					1																	53373561		2203	4300	6503	SO:0001583	missense	0			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.343C>T	1.37:g.53373561G>A	ENSP00000360577:p.Arg115Trp		D3DQ36|Q9NV38	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.R115W	ENST00000371522.4	37	c.343	CCDS55600.1	1	.	.	.	.	.	.	.	.	.	.	g	15.96	2.986722	0.53934	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.77358	-0.31;-1.09;-0.31;-1.09;-0.31	5.19	5.19	0.71726	Crotonase, core (1);	0.129710	0.52532	D	0.000080	D	0.89107	0.6621	M	0.90814	3.15	0.48571	D	0.999671	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.97110	1.0;0.998;0.885	D	0.90348	0.4364	10	0.66056	D	0.02	.	11.6158	0.51090	0.0:0.0:0.7157:0.2842	.	69;115;115	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	W	115;115;69;115;69	ENSP00000360577:R115W;ENSP00000351125:R115W;ENSP00000439264:R69W;ENSP00000441962:R115W;ENSP00000445358:R69W	ENSP00000351125:R115W	R	-	1	2	ECHDC2	53146149	0.997000	0.39634	1.000000	0.80357	0.434000	0.31775	1.388000	0.34442	2.582000	0.87167	0.550000	0.68814	CGG	0	pfam_Crotonase_core_superfam		0.617	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	protein_coding	OTTHUMT00000024712.3	104	160	0.94	0.00	1	0	G	NM_018281	rs200827816	G->A		53373561	-1	no_errors	ENST00000371522	ensembl	human	known	74_37	missense	63	144	35.05	28.37	34	59	SNP	0.999	A
DNAJC6	9829	genome.wustl.edu	37	1	65860702	65860702	+	Silent	SNP	G	G	A	rs185245369	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:65860702G>A	ENST00000395325.3	+	13	2011	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	DNAJC6_ENST00000263441.7_Silent_p.S605S|DNAJC6_ENST00000371069.4_Silent_p.S675S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	618	Pro-rich.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GAAGTCCTTCGCCCACAGTAC	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		19321	0.002		0.0	False		,,,				2504	0.0						0.9996,0.0003994											0								G		0,4406		0,0,2203	144.0	151.0	149.0		1854	-3.4	1.0	1		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAJC6	NM_014787.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		618/914	65860702	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1854G>A	1.37:g.65860702G>A			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.S675	ENST00000395325.3	37	c.2025	CCDS30739.1	1																																																																																			0	NULL		0.433	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	protein_coding	OTTHUMT00000025134.1	44	202	0	0.00	0	0	G		rs185245369	G->A		65860702	1	no_errors	ENST00000371069	ensembl	human	known	74_37	silent	22	164	31.25	33.06	10	81	SNP	0.994	A
LPHN2	23266	genome.wustl.edu	37	1	82456236	82456236	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:82456236A>G	ENST00000370728.1	+	25	4432	c.3787A>G	c.(3787-3789)Atc>Gtc	p.I1263V	LPHN2_ENST00000370721.1_Missense_Mutation_p.I1188V|LPHN2_ENST00000271029.4_Missense_Mutation_p.I1235V|LPHN2_ENST00000335786.5_Missense_Mutation_p.I1220V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.I1278V|LPHN2_ENST00000370727.1_Missense_Mutation_p.I1235V|LPHN2_ENST00000394879.1_Missense_Mutation_p.I1265V|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.I1265V|LPHN2_ENST00000370730.1_Missense_Mutation_p.I1220V|LPHN2_ENST00000319517.6_Missense_Mutation_p.I1207V|LPHN2_ENST00000370717.2_Missense_Mutation_p.I1278V|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.I1207V			O95490	LPHN2_HUMAN	latrophilin 2	1263					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGAGAAAATGATCATTTCAGA	0.458																																							0											0													120.0	109.0	113.0					1																	82456236		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3787A>G	1.37:g.82456236A>G	ENSP00000359763:p.Ile1263Val		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.I1278V	ENST00000370728.1	37	c.3832		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	13.79|13.79|13.79	2.341272|2.341272|2.341272	0.41498|0.41498|0.41498	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	.|T;T;D;D;T;T;D;D;T;T;D;D|.	.|0.84516|.	.|-1.41;-1.42;-1.86;-1.81;-1.35;-1.29;-1.76;-1.76;-1.35;-1.29;-1.81;-1.86|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	.|.|.	.|0.058498|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|.	0.70219|0.70219|.	0.3199|0.3199|.	M|M|M	0.77313|0.77313|0.77313	2.365|2.365|2.365	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|D;B|.	.|0.71674|.	.|0.998;0.232|.	.|D;B|.	.|0.87578|.	.|0.998;0.084|.	T|T|.	0.72207|0.72207|.	-0.4360|-0.4360|.	5|10|.	.|0.42905|.	.|T|.	.|0.14|.	.|.|.	16.1146|16.1146|16.1146	0.81295|0.81295|0.81295	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|1207;187|.	.|O95490-2;B3KVU1|.	.|.;.|.	G|V|W	274|1188;1263;1220;1235;1278;1265;1207;1207;1278;1265;1235;1220|1154	.|ENSP00000359756:I1188V;ENSP00000359763:I1263V;ENSP00000359765:I1220V;ENSP00000359762:I1235V;ENSP00000359760:I1278V;ENSP00000359758:I1265V;ENSP00000353006:I1207V;ENSP00000322270:I1207V;ENSP00000359752:I1278V;ENSP00000378344:I1265V;ENSP00000271029:I1235V;ENSP00000337306:I1220V|.	.|ENSP00000271029:I1235V|.	D|I|X	+|+|+	2|1|3	0|0|0	LPHN2|LPHN2|LPHN2	82228824|82228824|82228824	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.394000|0.394000|0.394000	0.30568|0.30568|0.30568	8.962000|8.962000|8.962000	0.93254|0.93254|0.93254	2.200000|2.200000|2.200000	0.70718|0.70718|0.70718	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GAT|ATC|TGA	0	pfam_GPCR_2_latrophilin_rcpt_C		0.458	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	42	138	0	0.00	0	0	A	NM_012302	0	0		82456236	1	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	27	93	28.95	30.08	11	40	SNP	1	G
GTF2B	2959	genome.wustl.edu	37	1	89318925	89318925	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:89318925T>C	ENST00000370500.5	-	7	1040	c.922A>G	c.(922-924)Acc>Gcc	p.T308A		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	308					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TCCACTGGGGTGTCAAATTTG	0.413																																							0											0													169.0	171.0	170.0					1																	89318925		2203	4300	6503	SO:0001583	missense	0			M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.922A>G	1.37:g.89318925T>C	ENSP00000359531:p.Thr308Ala		A8K1A7|Q5JS30	Missense_Mutation	SNP	pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB	p.T308A	ENST00000370500.5	37	c.922	CCDS715.1	1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207404	0.58343	.	.	ENSG00000137947	ENST00000370500	T	0.41758	0.99	5.99	5.99	0.97316	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.41710	1.295	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.10965	-1.0607	10	0.10111	T	0.7	-22.7199	16.4943	0.84223	0.0:0.0:0.0:1.0	.	308	Q00403	TF2B_HUMAN	A	308	ENSP00000359531:T308A	ENSP00000359531:T308A	T	-	1	0	GTF2B	89091513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	ACC	0	superfamily_Cyclin-like		0.413	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2B	protein_coding	OTTHUMT00000029279.1	89	276	0	0.00	0	0	T	NM_001514	0	0		89318925	-1	no_errors	ENST00000370500	ensembl	human	known	74_37	missense	60	228	31.03	29.75	27	97	SNP	1	C
SLC16A1	6566	genome.wustl.edu	37	1	113471876	113471876	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:113471876C>A	ENST00000538576.1	-	2	886	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	SLC16A1_ENST00000433570.4_Missense_Mutation_p.G19C|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Missense_Mutation_p.G19C	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	19					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ACTGCCCAGCCCCAGCCTCCA	0.433																																							0											0													45.0	46.0	45.0					1																	113471876		2203	4300	6503	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.55G>T	1.37:g.113471876C>A	ENSP00000441065:p.Gly19Cys		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G19C	ENST00000538576.1	37	c.55	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.208811	0.95069	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.97	5.97	0.96955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88206	0.2887	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	19;19	Q49A45;P53985	.;MOT1_HUMAN	C	19	ENSP00000358640:G19C;ENSP00000441065:G19C;ENSP00000416167:G19C;ENSP00000445061:G19C;ENSP00000399104:G19C;ENSP00000397106:G19C	ENSP00000358640:G19C	G	-	1	0	SLC16A1	113273399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.835000	0.97688	0.591000	0.81541	GGC	0	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.433	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	protein_coding	OTTHUMT00000033539.1	58	225	0	0.44	0	1	C	NM_003051	0	0		113471876	-1	no_errors	ENST00000369626	ensembl	human	known	74_37	missense	24	173	47.83	25.96	22	61	SNP	1	A
WDR3	10885	genome.wustl.edu	37	1	118483747	118483747	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:118483747C>T	ENST00000349139.5	+	8	837	c.790C>T	c.(790-792)Cga>Tga	p.R264*	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	264						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCTTCTGTAGCGAATCCTTTC	0.408																																							0											0													94.0	89.0	91.0					1																	118483747		2203	4300	6503	SO:0001630	splice_region_variant	0			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.790-1C>T	1.37:g.118483747C>T				Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R264*	ENST00000349139.5	37	c.790	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.110961	0.94292	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.4492	16.1254	0.81392	0.0:0.8665:0.1335:0.0	.	.	.	.	X	264	.	.	R	+	1	2	WDR3	118285270	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.007000	0.49536	2.673000	0.90976	0.655000	0.94253	CGA	0	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.408	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	protein_coding	OTTHUMT00000033720.2	51	185	0	0.00	0	0	C	NM_006784	0	0	Nonsense_Mutation	118483747	1	no_errors	ENST00000349139	ensembl	human	known	74_37	nonsense	30	137	23.08	33.17	9	68	SNP	1	T
PHGDH	26227	genome.wustl.edu	37	1	120263834	120263834	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:120263834C>T	ENST00000369409.4	+	2	316	c.180C>T	c.(178-180)acC>acT	p.T60T	PHGDH_ENST00000369407.3_Silent_p.T26T	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	60					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.T60T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CCAAGGTGACCGCTGATGTCA	0.532																																							0											1	Substitution - coding silent(1)	lung(1)											159.0	142.0	147.0					1																	120263834		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.180C>T	1.37:g.120263834C>T			B2RD08|Q5SZU3|Q9BQ01	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH	p.T60	ENST00000369409.4	37	c.180	CCDS904.1	1																																																																																			0	pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH		0.532	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHGDH	protein_coding	OTTHUMT00000033464.1	30	150	0	0.00	0	0	C	NM_006623	0	0		120263834	1	no_errors	ENST00000369409	ensembl	human	known	74_37	silent	21	106	21.43	24.82	6	35	SNP	0.038	T
PDE4DIP	9659	genome.wustl.edu	37	1	144874778	144874778	+	Silent	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:144874778G>T	ENST00000369354.3	-	30	5019	c.4830C>A	c.(4828-4830)acC>acA	p.T1610T	PDE4DIP_ENST00000530740.1_Silent_p.T1746T|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.T1610T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.T1566T|PDE4DIP_ENST00000369359.4_Silent_p.T1746T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1610	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.			T -> P (in Ref. 4; CAH18128). {ECO:0000305}.	cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACAGGAAAGAGGTGCTGCTGG	0.537			T	PDGFRB	MPD																																		0		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													266.0	252.0	257.0					1																	144874778		2203	4296	6499	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4830C>A	1.37:g.144874778G>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.T1610	ENST00000369354.3	37	c.4830	CCDS30824.1	1																																																																																			0	NULL		0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	protein_coding	OTTHUMT00000038858.2	93	90	0	0.00	0	0	G	NM_022359	0	0		144874778	-1	no_errors	ENST00000369356	ensembl	human	known	74_37	silent	62	131	12.68	12.08	9	18	SNP	0.989	T
ANKRD34A	284615	genome.wustl.edu	37	1	145473413	145473413	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:145473413G>A	ENST00000323397.4	+	4	1378	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	29						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGGGAGGCGCCTACGTGAA	0.647																																							0											0													64.0	66.0	66.0					1																	145473413		2203	4300	6503	SO:0001583	missense	0			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.85G>A	1.37:g.145473413G>A	ENSP00000314103:p.Ala29Thr		B3KSU3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A29T	ENST00000323397.4	37	c.85	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.066071	0.93898	.	.	ENSG00000181039	ENST00000323397	T	0.41065	1.01	5.03	5.03	0.67393	Ankyrin repeat-containing domain (3);	0.057327	0.64402	N	0.000001	T	0.61009	0.2313	M	0.81682	2.555	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.66114	-0.6004	10	0.87932	D	0	-12.1063	15.8842	0.79232	0.0:0.0:1.0:0.0	.	29	Q69YU3	AN34A_HUMAN	T	29	ENSP00000314103:A29T	ENSP00000314103:A29T	A	+	1	0	ANKRD34A	144184770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.257000	0.95545	2.601000	0.87937	0.491000	0.48974	GCC	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.647	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	protein_coding	OTTHUMT00000038512.1	40	129	0	0.00	0	0	G		0	0		145473413	1	no_errors	ENST00000323397	ensembl	human	known	74_37	missense	37	134	21.28	18.18	10	30	SNP	1	A
RBM8A	9939	genome.wustl.edu	37	1	145509002	145509002	+	Silent	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:145509002C>A	ENST00000330165.8	+	5	498	c.429C>A	c.(427-429)ccC>ccA	p.P143P	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RBM8A_ENST00000369307.3_Silent_p.P142P|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	143	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGACAGCCCATCAGCGTTG	0.483																																							0											0													106.0	105.0	106.0					1																	145509002		2203	4300	6503	SO:0001819	synonymous_variant	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.429C>A	1.37:g.145509002C>A			B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Silent	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8	p.P143	ENST00000330165.8	37	c.429	CCDS916.1	1																																																																																			0	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8		0.483	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM8A	protein_coding	OTTHUMT00000038503.2	79	95	0	0.00	0	0	C	NM_005105	0	0		145509002	1	no_errors	ENST00000330165	ensembl	human	known	74_37	silent	74	111	16.85	20.71	15	29	SNP	0.42	A
PIAS3	10401	genome.wustl.edu	37	1	145581435	145581435	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:145581435G>A	ENST00000393045.2	+	9	1106	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	PIAS3_ENST00000369298.1_Missense_Mutation_p.R304H	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	339					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCCTTGTCGTGCCCTCACC	0.517																																							0											0													120.0	108.0	112.0					1																	145581435		2203	4300	6503	SO:0001583	missense	0			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1016G>A	1.37:g.145581435G>A	ENSP00000376765:p.Arg339His		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R339H	ENST00000393045.2	37	c.1016	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021775	0.93462	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.69435	-0.4;-0.37	5.87	4.96	0.65561	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.64402	D	0.000014	T	0.71651	0.3365	H	0.98407	4.225	0.80722	D	1	B	0.26195	0.144	B	0.23419	0.046	T	0.78021	-0.2367	10	0.87932	D	0	-11.6666	12.7112	0.57089	0.0795:0.0:0.9205:0.0	.	339	Q9Y6X2	PIAS3_HUMAN	H	339;304	ENSP00000376765:R339H;ENSP00000358304:R304H	ENSP00000358304:R304H	R	+	2	0	PIAS3	144292792	1.000000	0.71417	0.920000	0.36463	0.999000	0.98932	9.860000	0.99555	1.489000	0.48450	0.655000	0.94253	CGT	0	pfam_Znf_MIZ,pfscan_Znf_MIZ		0.517	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	protein_coding	OTTHUMT00000038533.4	32	148	0	0.00	0	0	G	NM_006099	0	0		145581435	1	no_errors	ENST00000393045	ensembl	human	known	74_37	missense	41	147	18	20.54	9	38	SNP	0.997	A
ADAMTSL4	54507	genome.wustl.edu	37	1	150532263	150532263	+	Silent	SNP	G	G	A	rs368789447		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:150532263G>A	ENST00000369038.2	+	16	3171	c.2970G>A	c.(2968-2970)acG>acA	p.T990T	ADAMTSL4_ENST00000369039.5_Silent_p.T1013T|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.T990T			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	990	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGGGGGAACGCAGACACGGG	0.637											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		17067	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													94.0	102.0	99.0					1																	150532263		2203	4300	6503	SO:0001819	synonymous_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2970G>A	1.37:g.150532263G>A		1733	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.T1013	ENST00000369038.2	37	c.3039	CCDS955.1	1																																																																																			0	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.637	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	protein_coding	OTTHUMT00000084395.4	56	86	0	0.00	0	0	G	NM_019032	rs368789447	G->A		150532263	1	no_errors	ENST00000369039	ensembl	human	known	74_37	silent	39	104	35	19.38	21	25	SNP	0.008	A
RFX5	5993	genome.wustl.edu	37	1	151315023	151315023	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:151315023C>A	ENST00000290524.4	-	11	1668	c.1490G>T	c.(1489-1491)aGg>aTg	p.R497M	RFX5_ENST00000452513.2_Missense_Mutation_p.R457M|RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.R497M|RFX5_ENST00000368870.2_Missense_Mutation_p.R497M	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	497					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCATGGTAACCTTGAGGACTG	0.582																																							0											0													126.0	137.0	133.0					1																	151315023		2203	4300	6503	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1490G>T	1.37:g.151315023C>A	ENSP00000290524:p.Arg497Met		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R497M	ENST00000290524.4	37	c.1490	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580898	0.28180	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.42	2.55	0.30701	.	0.789213	0.12391	N	0.472992	T	0.17365	0.0417	M	0.62723	1.935	0.09310	N	1	P;P	0.49447	0.61;0.924	B;B	0.43155	0.219;0.41	T	0.12708	-1.0537	10	0.56958	D	0.05	-0.8128	4.0661	0.09861	0.1552:0.4609:0.3009:0.083	.	457;497	B7Z848;P48382	.;RFX5_HUMAN	M	497;497;497;457;497	ENSP00000290524:R497M;ENSP00000357864:R497M;ENSP00000389130:R497M;ENSP00000398388:R457M;ENSP00000376502:R497M	ENSP00000290524:R497M	R	-	2	0	RFX5	149581647	0.000000	0.05858	0.009000	0.14445	0.493000	0.33554	0.065000	0.14466	0.414000	0.25790	0.491000	0.48974	AGG	0	NULL		0.582	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	protein_coding	OTTHUMT00000034892.6	36	159	0	0.00	0	0	C	NM_000449	0	0		151315023	-1	no_errors	ENST00000290524	ensembl	human	known	74_37	missense	22	189	15.38	16.37	4	37	SNP	0.001	A
RIIAD1	284485	genome.wustl.edu	37	1	151700079	151700079	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:151700079A>G	ENST00000479191.1	+	3	190	c.190A>G	c.(190-192)Atc>Gtc	p.I64V	AL589765.1_ENST00000442233.2_3'UTR|RIIAD1_ENST00000426175.1_Intron|RIIAD1_ENST00000326413.3_Missense_Mutation_p.I74V	NM_001144956.1	NP_001138428.1	A6NNX1	RIAD1_HUMAN	regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1	64	RIIa.									endometrium(1)	1						ACCAGACAACATCCTAGAATT	0.453																																							0											0													144.0	122.0	129.0					1																	151700079		692	1591	2283	SO:0001583	missense	0				CCDS53368.1	1q21.3	2011-01-11	2011-01-11	2011-01-11	ENSG00000178796	ENSG00000178796			26686	protein-coding gene	gene with protein product			"""non-protein coding RNA 166"", ""chromosome 1 open reading frame 230"""	NCRNA00166, C1orf230			Standard	NM_001144956		Approved	FLJ36032	uc010pdj.1	A6NNX1	OTTHUMG00000013055	ENST00000479191.1:c.190A>G	1.37:g.151700079A>G	ENSP00000419249:p.Ile64Val			Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.I64V	ENST00000479191.1	37	c.190	CCDS53368.1	1	.	.	.	.	.	.	.	.	.	.	A	9.512	1.105986	0.20632	.	.	ENSG00000178796	ENST00000326413;ENST00000479191	T;T	0.75367	-0.93;-0.93	5.19	2.89	0.33648	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (2);	0.000000	0.44483	U	0.000443	T	0.33469	0.0864	.	.	.	0.25409	N	0.988374	B	0.18310	0.027	B	0.20577	0.03	T	0.22765	-1.0207	9	0.19590	T	0.45	-8.5274	6.5549	0.22454	0.8123:0.0:0.1877:0.0	.	64	A6NNX1	RIAD1_HUMAN	V	74;64	ENSP00000420280:I74V;ENSP00000419249:I64V	ENSP00000420280:I74V	I	+	1	0	RIIAD1	149966703	0.382000	0.25148	0.984000	0.44739	0.475000	0.33008	0.557000	0.23454	0.448000	0.26722	0.459000	0.35465	ATC	0	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b		0.453	RIIAD1-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RIIAD1	protein_coding	OTTHUMT00000036631.2	70	203	0	0.49	0	1	A	NM_001144956	0	0		151700079	1	no_errors	ENST00000479191	ensembl	human	known	74_37	missense	42	232	24.56	22.33	14	67	SNP	0.987	G
FLG	2312	genome.wustl.edu	37	1	152275306	152275306	+	Missense_Mutation	SNP	G	G	A	rs372573825		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152275306G>A	ENST00000368799.1	-	3	12091	c.12056C>T	c.(12055-12057)gCg>gTg	p.A4019V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4019					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTACCAAACGCACTTGCTTT	0.383									Ichthyosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		20890	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0								G	VAL/ALA	1,4405	4.2+/-10.8	0,1,2202	142.0	135.0	138.0		12056	-3.1	0.0	1		138	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	4019/4062	152275306	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.12056C>T	1.37:g.152275306G>A	ENSP00000357789:p.Ala4019Val		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A4019V	ENST00000368799.1	37	c.12056	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	6.127	0.391593	0.11581	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.00864	5.6	3.23	-3.11	0.05299	.	.	.	.	.	T	0.00178	0.0005	N	0.22421	0.69	0.09310	N	1	P	0.43633	0.813	B	0.22152	0.038	T	0.45323	-0.9269	9	0.27082	T	0.32	.	5.199	0.15254	0.0:0.2239:0.1849:0.5912	.	4019	P20930	FILA_HUMAN	V	4019	ENSP00000357789:A4019V	ENSP00000357789:A4019V	A	-	2	0	FLG	150541930	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.819000	0.00750	-0.624000	0.05611	-0.171000	0.13296	GCG	0	NULL		0.383	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	66	244	0	0.00	0	0	G	NM_002016	rs372573825	G->A		152275306	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	33	288	17.5	28.71	7	116	SNP	0	A
FLG	2312	genome.wustl.edu	37	1	152285917	152285917	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152285917T>C	ENST00000368799.1	-	3	1480	c.1445A>G	c.(1444-1446)cAt>cGt	p.H482R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	482	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCGTCCATGGGCAGAGTC	0.617									Ichthyosis																														0											0													226.0	216.0	219.0					1																	152285917		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1445A>G	1.37:g.152285917T>C	ENSP00000357789:p.His482Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.H482R	ENST00000368799.1	37	c.1445	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	10.34	1.322848	0.23994	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03951	3.75	3.82	1.13	0.20643	.	.	.	.	.	T	0.07548	0.0190	M	0.82923	2.615	0.09310	N	1	D	0.61697	0.99	D	0.79108	0.992	T	0.26224	-1.0109	9	0.14656	T	0.56	.	7.5015	0.27520	0.0:0.0:0.4432:0.5568	.	482	P20930	FILA_HUMAN	R	482;14	ENSP00000357789:H482R	ENSP00000357789:H482R	H	-	2	0	FLG	150552541	0.023000	0.18921	0.010000	0.14722	0.023000	0.10783	0.537000	0.23144	0.611000	0.30052	0.414000	0.27820	CAT	0	NULL		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	96	61	0	0.00	0	0	T	NM_002016	0	0		152285917	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	70	66	25.53	9.59	24	7	SNP	0.002	C
LCE3B	353143	genome.wustl.edu	37	1	152586488	152586488	+	Missense_Mutation	SNP	C	C	T	rs201393572	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152586488C>T	ENST00000335633.1	+	1	202	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	68	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCGATGCCGGCGCCAGAGCTC	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		7192	0.0		0.002	False		,,,				2504	0.0						0.9996,0.0003994											0													59.0	55.0	57.0					1																	152586488		1821	2707	4528	SO:0001583	missense	0				CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"""Late cornified envelopes"""	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.202C>T	1.37:g.152586488C>T	ENSP00000335358:p.Arg68Cys			Missense_Mutation	SNP	NULL	p.R68C	ENST00000335633.1	37	c.202	CCDS1016.1	1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	C	5.142	0.211891	0.09757	.	.	ENSG00000187238	ENST00000335633	T	0.04083	3.71	3.29	3.29	0.37713	.	.	.	.	.	T	0.05090	0.0136	.	.	.	0.19575	N	0.999961	D	0.71674	0.998	P	0.53954	0.738	T	0.23868	-1.0176	8	0.72032	D	0.01	.	9.9152	0.41430	0.0:1.0:0.0:0.0	.	68	Q5TA77	LCE3B_HUMAN	C	68	ENSP00000335358:R68C	ENSP00000335358:R68C	R	+	1	0	LCE3B	150853112	0.001000	0.12720	0.461000	0.27105	0.432000	0.31715	1.111000	0.31159	1.647000	0.50633	0.462000	0.41574	CGC	0	NULL		0.637	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LCE3B	protein_coding	OTTHUMT00000034515.2	33	11	0	0.00	0	0	C	NM_178433	rs201393572	C->T		152586488	1	no_errors	ENST00000335633	ensembl	human	novel	74_37	missense	7	2	72	75.00	18	6	SNP	0.115	T
ASH1L	55870	genome.wustl.edu	37	1	155451108	155451108	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:155451108T>C	ENST00000368346.3	-	3	2192	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	ASH1L_ENST00000392403.3_Missense_Mutation_p.K518R			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	518					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTTCATGCTTTGAGGTTTC	0.393																																							0											0													100.0	102.0	101.0					1																	155451108		2203	4300	6503	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1553A>G	1.37:g.155451108T>C	ENSP00000357330:p.Lys518Arg		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K518R	ENST00000368346.3	37	c.1553		1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703887	0.68501	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90788	-2.73;-2.72	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000009	D	0.83303	0.5225	N	0.14661	0.345	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.54889	0.584;0.763	D	0.86254	0.1651	10	0.52906	T	0.07	.	10.2556	0.43394	0.1477:0.0:0.0:0.8523	.	518;518	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	R	518	ENSP00000357330:K518R;ENSP00000376204:K518R	ENSP00000357330:K518R	K	-	2	0	ASH1L	153717732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.574000	0.53863	2.261000	0.74972	0.533000	0.62120	AAG	0	NULL		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	67	238	1.47	0.83	1	2	T	NM_018489	0	0		155451108	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	62	293	21.52	22.07	17	83	SNP	1	C
SEMA4A	64218	genome.wustl.edu	37	1	156142758	156142758	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:156142758C>A	ENST00000368285.3	+	11	1543	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I	SEMA4A_ENST00000368284.1_Missense_Mutation_p.L294I|SEMA4A_ENST00000355014.2_Missense_Mutation_p.L426I|SEMA4A_ENST00000368286.2_Missense_Mutation_p.L294I|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.L426I	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	426	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGCCCAGGGCCTTGATGGGCA	0.572																																							0											0													77.0	66.0	69.0					1																	156142758		2203	4300	6503	SO:0001583	missense	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1276C>A	1.37:g.156142758C>A	ENSP00000357268:p.Leu426Ile		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L426I	ENST00000368285.3	37	c.1276	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927171	0.34002	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.23	-5.0	0.03001	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.642672	0.14506	N	0.315411	T	0.02888	0.0086	L	0.35723	1.085	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.30316	0.078;0.114	T	0.47302	-0.9128	10	0.49607	T	0.09	.	9.7556	0.40502	0.2496:0.3688:0.3817:0.0	.	294;426	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	I	426;426;294;388;388;294;426	ENSP00000347117:L426I;ENSP00000357268:L426I;ENSP00000357267:L294I;ENSP00000357269:L294I;ENSP00000357265:L426I	ENSP00000347117:L426I	L	+	1	0	SEMA4A	154409382	0.000000	0.05858	0.008000	0.14137	0.780000	0.44128	-1.519000	0.02243	-0.482000	0.06782	0.561000	0.74099	CTT	0	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.572	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	protein_coding	OTTHUMT00000039484.2	45	165	0	0.00	0	0	C	NM_022367	0	0		156142758	1	no_errors	ENST00000355014	ensembl	human	known	74_37	missense	46	166	9.8	26.22	5	59	SNP	0	A
VHLL	391104	genome.wustl.edu	37	1	156268898	156268898	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:156268898T>C	ENST00000339922.3	-	1	530	c.83A>G	c.(82-84)gAa>gGa	p.E28G		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	28										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					GCCCAACTCTTCCTGGCAGTA	0.632																																							0											0													47.0	50.0	49.0					1																	156268898		2203	4300	6503	SO:0001583	missense	0					1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.83A>G	1.37:g.156268898T>C	ENSP00000464258:p.Glu28Gly		A1L4M4	Missense_Mutation	SNP	pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom	p.E28G	ENST00000339922.3	37	c.83		1																																																																																			0	NULL		0.632	VHLL-001	KNOWN	basic|appris_principal	protein_coding	VHLL	protein_coding	OTTHUMT00000060590.3	62	87	1.59	0.00	1	0	T	NM_001004319	0	0		156268898	-1	no_errors	ENST00000339922	ensembl	human	known	74_37	missense	61	69	19.74	30.30	15	30	SNP	0.001	C
RHBG	57127	genome.wustl.edu	37	1	156351150	156351150	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:156351150T>C	ENST00000368249.1	+	5	724	c.686T>C	c.(685-687)cTg>cCg	p.L229P	RHBG_ENST00000537040.1_Missense_Mutation_p.L67P|RHBG_ENST00000400992.2_Missense_Mutation_p.L197P|RHBG_ENST00000368246.2_Missense_Mutation_p.L229P|RHBG_ENST00000255013.3_Missense_Mutation_p.L160P|RHBG_ENST00000451864.2_Missense_Mutation_p.L197P	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	229					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACCATCTTCCTGTGGATCTTC	0.557																																							0											0													53.0	55.0	54.0					1																	156351150		2085	4217	6302	SO:0001583	missense	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.686T>C	1.37:g.156351150T>C	ENSP00000357232:p.Leu229Pro		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.L229P	ENST00000368249.1	37	c.686		1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483197	0.84747	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000537040;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.2	5.2	0.72013	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.97110	0.977;1.0;0.961;0.999	T	0.80437	-0.1383	10	0.87932	D	0	-18.0245	14.04	0.64669	0.0:0.0:0.0:1.0	.	229;67;197;266	Q9H310;F5GWZ4;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.;.	P	229;229;67;197;160;197	ENSP00000357232:L229P;ENSP00000357229:L229P;ENSP00000441197:L67P;ENSP00000383777:L197P;ENSP00000255013:L160P;ENSP00000389836:L197P	ENSP00000255013:L160P	L	+	2	0	RHBG	154617774	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.966000	0.70395	2.187000	0.69744	0.533000	0.62120	CTG	0	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD		0.557	RHBG-001	NOVEL	basic	protein_coding	RHBG	protein_coding	OTTHUMT00000060589.2	34	147	0	0.00	0	0	T	NM_001256395	0	0		156351150	1	no_errors	ENST00000368246	ensembl	human	known	74_37	missense	34	209	14.63	16.40	6	41	SNP	1	C
DEDD	9191	genome.wustl.edu	37	1	161090896	161090896	+	3'UTR	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:161090896T>C	ENST00000368006.3	-	0	2212				PFDN2_ENST00000368010.3_5'Flank|DEDD_ENST00000545495.1_3'UTR|DEDD_ENST00000392188.1_3'UTR|NIT1_ENST00000368007.4_3'UTR|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_3'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000458050.2_3'UTR	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GAAGGGGAGTTGGTATTGTAC	0.458																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.*1041A>G	1.37:g.161090896T>C			D3DVF5|O60737	RNA	SNP	0	NULL	ENST00000368006.3	37	NULL	CCDS1219.1	1																																																																																			0	0		0.458	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	protein_coding	OTTHUMT00000080582.1	73	222	0	0.00	0	0	T	NM_004216	0	0		161090896	-1	no_errors	ENST00000472996	ensembl	human	known	74_37	rna	78	236	16.13	23.87	15	74	SNP	0.142	C
DEDD	9191	genome.wustl.edu	37	1	161094036	161094036	+	Missense_Mutation	SNP	G	G	A	rs151010008		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:161094036G>A	ENST00000368006.3	-	3	431	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	DEDD_ENST00000368005.1_Missense_Mutation_p.R73C|DEDD_ENST00000490843.2_Missense_Mutation_p.R73C|DEDD_ENST00000545495.1_Missense_Mutation_p.R73C|DEDD_ENST00000392188.1_Missense_Mutation_p.R73C|DEDD_ENST00000489249.1_Intron|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000458050.2_Missense_Mutation_p.R73C	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	73	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGGCCCTGGCGCTCCAGTGCC	0.552																																							0											0								G	CYS/ARG,CYS/ARG,,CYS/ARG	0,4406		0,0,2203	85.0	75.0	78.0		217,217,,217	5.7	1.0	1	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	NIT1,DEDD	NM_001039711.1,NM_001039712.1,NM_001185092.1,NM_032998.2	180,180,,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	73/319,73/319,,73/319	161094036	1,13005	2203	4300	6503	SO:0001583	missense	0			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.217C>T	1.37:g.161094036G>A	ENSP00000356985:p.Arg73Cys		D3DVF5|O60737	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.R73C	ENST00000368006.3	37	c.217	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296459	0.81025	0.0	1.16E-4	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005	.	.	.	5.66	5.66	0.87406	DEATH-like (2);Death effector (3);	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67231	0.95;0.895	T	0.65092	-0.6252	9	0.87932	D	0	.	12.219	0.54423	0.0:0.0:0.8299:0.1701	.	73;73	B1AQP5;O75618	.;DEDD_HUMAN	C	73	.	ENSP00000356984:R73C	R	-	1	0	DEDD	159360660	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.675000	0.68123	2.669000	0.90835	0.655000	0.94253	CGC	0	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED		0.552	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	protein_coding	OTTHUMT00000080582.1	45	141	0	0.00	0	0	G	NM_004216	rs151010008	G->A		161094036	-1	no_errors	ENST00000368005	ensembl	human	known	74_37	missense	27	144	10	21.74	3	40	SNP	1	A
LRRC52	440699	genome.wustl.edu	37	1	165514119	165514119	+	Missense_Mutation	SNP	G	G	A	rs149365089		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:165514119G>A	ENST00000294818.1	+	1	876	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	196	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCTGGACTTCGCCATCTTCTT	0.517																																							0											0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	119.0	121.0	121.0		586	2.0	1.0	1	dbSNP_134	121	0,8600		0,0,4300	no	missense	LRRC52	NM_001005214.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	196/314	165514119	1,13005	2203	4300	6503	SO:0001583	missense	0			AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.586G>A	1.37:g.165514119G>A	ENSP00000294818:p.Ala196Thr		A2RUN7|Q5T9K5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.A196T	ENST00000294818.1	37	c.586	CCDS30930.1	1	.	.	.	.	.	.	.	.	.	.	G	4.672	0.124953	0.08931	2.27E-4	0.0	ENSG00000162763	ENST00000294818	T	0.02446	4.29	5.39	2.01	0.26516	.	0.522829	0.22968	N	0.053475	T	0.00241	0.0007	N	0.00162	-1.95	0.23594	N	0.997334	B	0.10296	0.003	B	0.06405	0.002	T	0.32877	-0.9890	9	0.19147	T	0.46	.	5.5138	0.16896	0.6881:0.1762:0.1357:0.0	.	196	Q8N7C0	LRC52_HUMAN	T	196	ENSP00000294818:A196T	ENSP00000294818:A196T	A	+	1	0	LRRC52	163780743	0.461000	0.25783	1.000000	0.80357	0.998000	0.95712	0.009000	0.13219	0.119000	0.18210	0.563000	0.77884	GCC	0	NULL		0.517	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC52	protein_coding	OTTHUMT00000083793.1	33	180	0	0.00	0	0	G	NM_001005214	rs149365089	G->A		165514119	1	no_errors	ENST00000294818	ensembl	human	known	74_37	missense	45	200	23.73	22.39	14	58	SNP	1	A
STX6	10228	genome.wustl.edu	37	1	180971836	180971836	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:180971836C>T	ENST00000258301.5	-	3	443	c.206G>A	c.(205-207)aGc>aAc	p.S69N	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	69					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)	p.S69N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TTCAACTATGCGTAGGTCAAA	0.368																																							0											1	Substitution - Missense(1)	large_intestine(1)											128.0	122.0	124.0					1																	180971836		2201	4299	6500	SO:0001630	splice_region_variant	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.206-1G>A	1.37:g.180971836C>T			B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S69N	ENST00000258301.5	37	c.206	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606871	0.28623	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.58	4.67	0.58626	.	0.378650	0.34067	N	0.004282	T	0.54111	0.1838	L	0.34521	1.04	0.24451	N	0.99449	.	.	.	.	.	.	T	0.57207	-0.7851	6	0.19590	T	0.45	.	15.5677	0.76306	0.139:0.861:0.0:0.0	.	.	.	.	N	69	.	ENSP00000258301:S69N	S	-	2	0	STX6	179238459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.966000	0.76073	1.329000	0.45376	0.655000	0.94253	AGC	0	pfam_Syntaxin-6_N,superfamily_t-SNARE		0.368	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	protein_coding	OTTHUMT00000085143.1	81	308	0	0.00	0	0	C	NM_005819	0	0	Missense_Mutation	180971836	-1	no_errors	ENST00000258301	ensembl	human	known	74_37	missense	72	378	28	24.05	28	120	SNP	1	T
ZNF648	127665	genome.wustl.edu	37	1	182026601	182026601	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:182026601G>A	ENST00000339948.3	-	2	752	c.545C>T	c.(544-546)aCg>aTg	p.T182M		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTGCGGACGTGTCTACACT	0.582																																					NSCLC(71;908 1374 5429 20458 35642)		0											0													62.0	66.0	64.0					1																	182026601		2203	4300	6503	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.545C>T	1.37:g.182026601G>A	ENSP00000344129:p.Thr182Met		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T182M	ENST00000339948.3	37	c.545	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829588	0.16749	.	.	ENSG00000179930	ENST00000339948	T	0.07327	3.2	2.71	-0.495	0.12030	.	.	.	.	.	T	0.04679	0.0127	N	0.24115	0.695	0.09310	N	1	B	0.27117	0.168	B	0.17722	0.019	T	0.39057	-0.9632	9	0.87932	D	0	.	2.4938	0.04616	0.1165:0.1713:0.5043:0.2079	.	182	Q5T619	ZN648_HUMAN	M	182	ENSP00000344129:T182M	ENSP00000344129:T182M	T	-	2	0	ZNF648	180293224	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.060000	0.11712	-0.096000	0.12329	-0.140000	0.14226	ACG	0	NULL		0.582	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	protein_coding	OTTHUMT00000090794.1	79	167	0	0.00	0	0	G	XM_060597	0	0		182026601	-1	no_errors	ENST00000339948	ensembl	human	novel	74_37	missense	56	152	30	32.74	24	74	SNP	0	A
SMG7	9887	genome.wustl.edu	37	1	183511427	183511427	+	Silent	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:183511427G>T	ENST00000347615.2	+	14	1751	c.1632G>T	c.(1630-1632)gtG>gtT	p.V544V	SMG7_ENST00000508461.1_Silent_p.V502V|SMG7_ENST00000456731.2_Silent_p.V502V|SMG7_ENST00000367537.3_Silent_p.V573V|SMG7_ENST00000515829.2_Silent_p.V544V|SMG7_ENST00000507469.1_Silent_p.V544V	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	544					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGAAGCCAGTGGTTACCTTCA	0.448																																							0											0													128.0	128.0	128.0					1																	183511427		2203	4300	6503	SO:0001819	synonymous_variant	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1632G>T	1.37:g.183511427G>T			B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	pfam_EST1	p.V544	ENST00000347615.2	37	c.1632	CCDS1355.1	1																																																																																			0	NULL		0.448	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	33	247	0	0.00	0	0	G	NM_014837	0	0		183511427	1	no_errors	ENST00000507469	ensembl	human	known	74_37	silent	35	310	22.22	17.99	10	68	SNP	1	T
RGL1	23179	genome.wustl.edu	37	1	183854067	183854067	+	Missense_Mutation	SNP	G	G	A	rs78436705		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:183854067G>A	ENST00000360851.3	+	7	1124	c.946G>A	c.(946-948)Gct>Act	p.A316T	RGL1_ENST00000536277.1_Missense_Mutation_p.A314T|RGL1_ENST00000304685.4_Missense_Mutation_p.A351T|RGL1_ENST00000539189.1_Missense_Mutation_p.A316T			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	316	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GATCAACATCGCTCATGTAAT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		19327	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													79.0	73.0	75.0					1																	183854067		2203	4300	6503	SO:0001583	missense	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.946G>A	1.37:g.183854067G>A	ENSP00000354097:p.Ala316Thr		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A351T	ENST00000360851.3	37	c.1051		1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	34	5.377008	0.95945	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	4.96	4.96	0.65561	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.999	D	0.88826	0.3302	10	0.72032	D	0.01	.	18.6014	0.91249	0.0:0.0:1.0:0.0	.	316;314;121;316;351	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	T	351;351;314;121;316;316	ENSP00000303192:A351T;ENSP00000356501:A351T;ENSP00000438662:A314T;ENSP00000354097:A316T;ENSP00000437355:A316T	ENSP00000303192:A351T	A	+	1	0	RGL1	182120690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.185000	0.94900	2.467000	0.83353	0.650000	0.86243	GCT	0	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.398	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	protein_coding	OTTHUMT00000085742.1	40	258	0	0.00	0	0	G	NM_015149	rs78436705	G->A		183854067	1	no_errors	ENST00000304685	ensembl	human	known	74_37	missense	33	292	23.26	18.44	10	66	SNP	1	A
HMCN1	83872	genome.wustl.edu	37	1	186106785	186106785	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186106785A>G	ENST00000271588.4	+	88	13967	c.13738A>G	c.(13738-13740)Aat>Gat	p.N4580D	HMCN1_ENST00000367492.2_Missense_Mutation_p.N4580D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4580	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAACTGTCAAAATAAGCCTTG	0.453																																							0											0													80.0	82.0	81.0					1																	186106785		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13738A>G	1.37:g.186106785A>G	ENSP00000271588:p.Asn4580Asp		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.N4580D	ENST00000271588.4	37	c.13738	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	8.715	0.912867	0.17907	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.52295	0.67;0.67	5.78	4.71	0.59529	.	0.282354	0.44902	D	0.000414	T	0.33614	0.0869	L	0.31157	0.91	0.09310	N	1	B	0.27316	0.175	B	0.27608	0.081	T	0.16600	-1.0397	10	0.11182	T	0.66	.	12.5795	0.56383	0.6565:0.3435:0.0:0.0	.	4580	Q96RW7	HMCN1_HUMAN	D	4580	ENSP00000271588:N4580D;ENSP00000356462:N4580D	ENSP00000271588:N4580D	N	+	1	0	HMCN1	184373408	0.926000	0.31397	0.003000	0.11579	0.552000	0.35366	4.575000	0.60908	1.140000	0.42260	0.528000	0.53228	AAT	0	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.453	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	37	300	2.63	0.00	1	0	A	NM_031935	0	0		186106785	1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	30	278	28.57	23.20	12	84	SNP	0.04	G
PRG4	10216	genome.wustl.edu	37	1	186276066	186276066	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186276066A>G	ENST00000445192.2	+	7	1260	c.1215A>G	c.(1213-1215)gcA>gcG	p.A405A	PRG4_ENST00000367486.3_Silent_p.A362A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.A312A|PRG4_ENST00000367483.4_Silent_p.A364A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGGAGCCTGCACCCACCACTC	0.657																																							0											0													92.0	86.0	88.0					1																	186276066		2203	4297	6500	SO:0001819	synonymous_variant	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1215A>G	1.37:g.186276066A>G			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.A405	ENST00000445192.2	37	c.1215	CCDS1369.1	1																																																																																			0	NULL		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	117	61	0	0.00	0	0	A	NM_005807	0	0		186276066	1	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	100	88	19.38	18.25	25	23	SNP	0	G
PRG4	10216	genome.wustl.edu	37	1	186276985	186276985	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186276985A>T	ENST00000445192.2	+	7	2179	c.2134A>T	c.(2134-2136)Act>Tct	p.T712S	PRG4_ENST00000367486.3_Missense_Mutation_p.T669S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T619S|PRG4_ENST00000367483.4_Missense_Mutation_p.T671S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	712	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCTAAAGGGACTGCTCCAAC	0.592																																							0											0													165.0	178.0	174.0					1																	186276985		2203	4300	6503	SO:0001583	missense	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2134A>T	1.37:g.186276985A>T	ENSP00000399679:p.Thr712Ser		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.T712S	ENST00000445192.2	37	c.2134	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	5.164	0.215784	0.09810	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04156	3.69;3.8;3.74;3.8	1.73	-1.81	0.07882	.	0.171881	0.27654	U	0.018413	T	0.03178	0.0093	L	0.36672	1.1	0.09310	N	0.999994	B;B;B;B	0.26445	0.149;0.149;0.092;0.149	B;B;B;B	0.21360	0.034;0.034;0.015;0.034	T	0.42849	-0.9427	9	.	.	.	.	6.2481	0.20830	0.6636:0.3364:0.0:0.0	.	578;619;712;671	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	669;578;671;619;712	ENSP00000356456:T669S;ENSP00000356453:T671S;ENSP00000356455:T619S;ENSP00000399679:T712S	.	T	+	1	0	PRG4	184543608	0.000000	0.05858	0.001000	0.08648	0.124000	0.20399	-4.679000	0.00199	0.002000	0.14630	0.055000	0.15244	ACT	0	NULL		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	protein_coding	OTTHUMT00000086346.1	92	162	1.08	0.00	1	0	A	NM_005807	0	0		186276985	1	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	80	175	31.62	19.56	37	44	SNP	0.006	T
TPR	7175	genome.wustl.edu	37	1	186313621	186313621	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:186313621C>T	ENST00000367478.4	-	25	3599	c.3303G>A	c.(3301-3303)gaG>gaA	p.E1101E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1101					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTGAAACCTGCTCCTTCGCAG	0.423			T	NTRK1	papillary thyroid																																		0		Dom	yes		1	1q25	7175	translocated promoter region		E	0													222.0	200.0	207.0					1																	186313621		1944	4166	6110	SO:0001819	synonymous_variant	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3303G>A	1.37:g.186313621C>T			Q15655|Q5SWY0|Q99968	Silent	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1101	ENST00000367478.4	37	c.3303	CCDS41446.1	1																																																																																			0	pfam_TPR_MLP1_2		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	protein_coding	OTTHUMT00000086353.2	46	159	0	0.00	0	0	C	NM_003292	0	0		186313621	-1	no_errors	ENST00000367478	ensembl	human	known	74_37	silent	47	194	22.95	30.96	14	87	SNP	0.99	T
GLRX2	51022	genome.wustl.edu	37	1	193066784	193066784	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:193066784A>G	ENST00000367439.3	-	3	338	c.290T>C	c.(289-291)gTg>gCg	p.V97A	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367440.3_Missense_Mutation_p.V98A	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	97	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	GTCCAGTTCCACCACTTTATA	0.378																																							0											0													146.0	138.0	140.0					1																	193066784		2203	4300	6503	SO:0001583	missense	0			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.290T>C	1.37:g.193066784A>G	ENSP00000356409:p.Val97Ala		Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.V98A	ENST00000367439.3	37	c.293	CCDS1381.1	1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.906195	0.92107	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.36340	1.26;1.26	6.03	6.03	0.97812	Glutaredoxin (2);Glutaredoxin, eukaryotic/virial (1);Thioredoxin-like fold (2);	0.167023	0.52532	D	0.000075	T	0.71375	0.3332	H	0.95470	3.675	0.58432	D	0.999998	D;D	0.67145	0.987;0.996	D;D	0.71656	0.932;0.974	T	0.80703	-0.1264	10	0.72032	D	0.01	-34.8052	16.2196	0.82251	1.0:0.0:0.0:0.0	.	98;97	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	A	97;98	ENSP00000356409:V97A;ENSP00000356410:V98A	ENSP00000356409:V97A	V	-	2	0	GLRX2	191333407	0.996000	0.38824	0.996000	0.52242	0.980000	0.70556	7.048000	0.76606	2.308000	0.77769	0.533000	0.62120	GTG	0	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,tigrfam_Glutaredoxin_euk/vir		0.378	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLRX2	protein_coding	OTTHUMT00000086699.1	85	249	0	0.00	0	0	A	NM_016066	0	0		193066784	-1	no_errors	ENST00000367440	ensembl	human	known	74_37	missense	95	290	23.39	25.95	29	102	SNP	0.996	G
MIR181A1	406995	genome.wustl.edu	37	1	198828051	198828051	+	RNA	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:198828051T>A	ENST00000385026.1	-	0	110				MIR181B1_ENST00000385240.1_RNA	NR_029626.1				microRNA 181a-1																		TCCACACAGTTCAACCCACCG	0.423																																							0											0													122.0	113.0	116.0					1																	198828051		1568	3582	5150			0					1q32.1	2011-09-12	2006-05-16	2008-12-18	ENSG00000207759	ENSG00000207759		"""ncRNAs / Micro RNAs"""	31590	non-coding RNA	RNA, micro		612742	"""microRNA 213"""	MIRN213, MIRN181A1			Standard	NR_029626		Approved	hsa-mir-213	uc001guy.3				1.37:g.198828051T>A				RNA	SNP	0	NULL	ENST00000385026.1	37	NULL		1																																																																																			0	0		0.423	MIR181A1-201	KNOWN	basic	miRNA	MIR181B1	miRNA		66	218	0	0.00	0	0	T	NR_029626	0	0		198828051	-1	no_errors	ENST00000385240	ensembl	human	known	74_37	rna	40	232	24.53	16.19	13	45	SNP	1	A
CACNA1S	779	genome.wustl.edu	37	1	201016708	201016708	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:201016708C>A	ENST00000362061.3	-	37	4714	c.4488G>T	c.(4486-4488)aaG>aaT	p.K1496N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.K1477N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1496					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTCCAGATCTTCTTGATGA	0.517																																							0											0													123.0	102.0	109.0					1																	201016708		2203	4300	6503	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4488G>T	1.37:g.201016708C>A	ENSP00000355192:p.Lys1496Asn		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.K1496N	ENST00000362061.3	37	c.4488	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	19.54	3.846136	0.71603	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.09255	3.0;3.0	4.94	4.94	0.65067	.	0.264229	0.41938	D	0.000781	T	0.22820	0.0551	M	0.74389	2.26	0.50632	D	0.999883	D	0.62365	0.991	P	0.53593	0.73	T	0.00438	-1.1739	10	0.51188	T	0.08	.	10.2695	0.43475	0.0:0.8701:0.0:0.1299	.	1496	Q13698	CAC1S_HUMAN	N	1496;1477	ENSP00000355192:K1496N;ENSP00000356307:K1477N	ENSP00000355192:K1496N	K	-	3	2	CACNA1S	199283331	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.644000	0.24766	2.459000	0.83118	0.561000	0.74099	AAG	0	NULL		0.517	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	23	184	0	0.00	0	0	C	NM_000069	0	0		201016708	-1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	22	172	29.03	17.22	9	36	SNP	1	A
KLHL12	59349	genome.wustl.edu	37	1	202861669	202861669	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:202861669C>T	ENST00000367261.3	-	12	1917	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	KLHL12_ENST00000367259.1_3'UTR|KLHL12_ENST00000435533.3_Missense_Mutation_p.E605K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	567	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTCACTTCTCGCGGAGAACA	0.488																																							0											0													114.0	93.0	100.0					1																	202861669		2203	4300	6503	SO:0001583	missense	0			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1699G>A	1.37:g.202861669C>T	ENSP00000356230:p.Glu567Lys		A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E605K	ENST00000367261.3	37	c.1813	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416090	0.62511	.	.	ENSG00000117153	ENST00000367261;ENST00000435533	T;T	0.68479	-0.3;-0.33	5.27	5.27	0.74061	.	.	.	.	.	T	0.59101	0.2169	N	0.12831	0.26	0.80722	D	1	D;B	0.55605	0.972;0.006	P;B	0.54759	0.76;0.001	T	0.54899	-0.8224	9	0.02654	T	1	.	19.2678	0.93997	0.0:1.0:0.0:0.0	.	605;567	B7Z7B8;Q53G59	.;KLH12_HUMAN	K	567;605	ENSP00000356230:E567K;ENSP00000416886:E605K	ENSP00000356230:E567K	E	-	1	0	KLHL12	201128292	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.776000	0.85560	2.599000	0.87857	0.650000	0.86243	GAG	0	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.488	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	protein_coding	OTTHUMT00000099151.1	55	61	0	0.00	0	0	C	NM_021633	0	0		202861669	-1	no_errors	ENST00000435533	ensembl	human	known	74_37	missense	47	66	12.96	15.38	7	12	SNP	1	T
ATP2B4	493	genome.wustl.edu	37	1	203682357	203682357	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:203682357C>A	ENST00000357681.5	+	14	3399	c.2276C>A	c.(2275-2277)aCt>aAt	p.T759N	ATP2B4_ENST00000367219.3_Missense_Mutation_p.T747N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.T759N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.T759N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.T759N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	759					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTTCTCCCACTGACAAGCAC	0.552																																							0											0													175.0	162.0	166.0					1																	203682357		2203	4300	6503	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2276C>A	1.37:g.203682357C>A	ENSP00000350310:p.Thr759Asn		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.T759N	ENST00000357681.5	37	c.2276	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032237	0.93575	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72	5.2	5.2	0.72013	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.135636	0.34178	N	0.004187	D	0.96670	0.8913	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;0.973;0.997	D;P;D	0.83275	0.983;0.874;0.996	D	0.97412	1.0003	10	0.72032	D	0.01	-20.5918	18.3579	0.90364	0.0:1.0:0.0:0.0	.	759;759;759	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	759;759;747;759;759	ENSP00000350310:T759N;ENSP00000356187:T759N;ENSP00000356188:T747N;ENSP00000375816:T759N;ENSP00000340930:T759N	ENSP00000340930:T759N	T	+	2	0	ATP2B4	201948980	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.792000	0.85828	2.429000	0.82318	0.650000	0.86243	ACT	0	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase		0.552	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	protein_coding	OTTHUMT00000087462.1	48	138	0	0.00	0	0	C	NM_001001396	0	0		203682357	1	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	37	187	19.15	23.05	9	56	SNP	1	A
KISS1	3814	genome.wustl.edu	37	1	204159762	204159762	+	Silent	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:204159762G>T	ENST00000367194.4	-	3	415	c.267C>A	c.(265-267)ccC>ccA	p.P89P		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	89					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		GGCGGCTGTGGGGGGCGGACA	0.726																																							0											0													4.0	5.0	4.0					1																	204159762		1433	3340	4773	SO:0001819	synonymous_variant	0			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.267C>A	1.37:g.204159762G>T			A8K6N0|Q9HBP1	Silent	SNP	NULL	p.P89	ENST00000367194.4	37	c.267	CCDS41454.1	1																																																																																			0	NULL		0.726	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KISS1	protein_coding	OTTHUMT00000087892.1	12	15	0	0.00	0	0	G	NM_002256	0	0		204159762	-1	no_errors	ENST00000367194	ensembl	human	known	74_37	silent	10	10	33.33	16.67	5	2	SNP	0	T
LRRN2	10446	genome.wustl.edu	37	1	204588191	204588191	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:204588191G>A	ENST00000367175.1	-	1	3142	c.930C>T	c.(928-930)ccC>ccT	p.P310P	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Silent_p.P310P|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.P310P			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	310					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTCAGCTCGGGGAGGTTCA	0.592																																							0											0													107.0	77.0	87.0					1																	204588191		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.930C>T	1.37:g.204588191G>A			B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P310	ENST00000367175.1	37	c.930	CCDS1448.1	1																																																																																			0	smart_Leu-rich_rpt_typical-subtyp		0.592	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	protein_coding	OTTHUMT00000089894.1	26	194	0	0.00	0	0	G	NM_006338	0	0		204588191	-1	no_errors	ENST00000367175	ensembl	human	known	74_37	silent	27	206	17.65	23.70	6	64	SNP	0.319	A
TMCC2	9911	genome.wustl.edu	37	1	205238455	205238455	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:205238455C>T	ENST00000358024.3	+	3	1514	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	TMCC2_ENST00000329800.7_Silent_p.D135D|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.D150D|TMCC2_ENST00000545499.1_Silent_p.D297D	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	375						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCCCAAGGACGTGCTGCGGG	0.682																																							0											0													24.0	24.0	24.0					1																	205238455		2203	4300	6503	SO:0001819	synonymous_variant	0			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1125C>T	1.37:g.205238455C>T			A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.D375	ENST00000358024.3	37	c.1125	CCDS30984.1	1																																																																																			0	pfam_Predicted_TM_coiled-coil_2		0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	protein_coding	OTTHUMT00000090383.1	18	57	0	0.00	0	0	C	NM_014858	0	0		205238455	1	no_errors	ENST00000358024	ensembl	human	known	74_37	silent	35	50	18.6	26.47	8	18	SNP	0.903	T
AVPR1B	553	genome.wustl.edu	37	1	206225276	206225276	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:206225276C>T	ENST00000367126.4	+	1	1301	c.836C>T	c.(835-837)aCa>aTa	p.T279I	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	279					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGATCCGAACAGTGAAGATG	0.577																																							0											0													82.0	77.0	79.0					1																	206225276		2203	4300	6503	SO:0001583	missense	0			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.836C>T	1.37:g.206225276C>T	ENSP00000356094:p.Thr279Ile		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.T279I	ENST00000367126.4	37	c.836	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283292	0.80803	.	.	ENSG00000198049	ENST00000367126	T	0.37915	1.17	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69409	-0.5153	10	0.87932	D	0	-26.502	18.6497	0.91427	0.0:1.0:0.0:0.0	.	279	P47901	V1BR_HUMAN	I	279	ENSP00000356094:T279I	ENSP00000356094:T279I	T	+	2	0	AVPR1B	204391899	1.000000	0.71417	0.927000	0.36925	0.858000	0.48976	7.818000	0.86416	2.499000	0.84300	0.462000	0.41574	ACA	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn		0.577	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	protein_coding	OTTHUMT00000087996.1	20	109	0	0.00	0	0	C	NM_000707	0	0		206225276	1	no_errors	ENST00000367126	ensembl	human	known	74_37	missense	12	120	25	23.57	4	37	SNP	1	T
PLXNA2	5362	genome.wustl.edu	37	1	208216462	208216462	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:208216462C>T	ENST00000367033.3	-	21	4718	c.3961G>A	c.(3961-3963)Gct>Act	p.A1321T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1321					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTCGCATAGCGTAGGTACGA	0.587																																							0											0													91.0	85.0	87.0					1																	208216462		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3961G>A	1.37:g.208216462C>T	ENSP00000356000:p.Ala1321Thr		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A1321T	ENST00000367033.3	37	c.3961	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.215025	0.95104	.	.	ENSG00000076356	ENST00000367033	T	0.13538	2.58	5.42	5.42	0.78866	Plexin, cytoplasmic RasGAP domain (1);	0.047904	0.85682	D	0.000000	T	0.14013	0.0339	N	0.25060	0.705	0.80722	D	1	P	0.52577	0.954	P	0.45506	0.483	T	0.05007	-1.0912	10	0.29301	T	0.29	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	1321	O75051	PLXA2_HUMAN	T	1321	ENSP00000356000:A1321T	ENSP00000356000:A1321T	A	-	1	0	PLXNA2	206283085	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	5.727000	0.68523	2.543000	0.85770	0.650000	0.86243	GCT	0	pfam_Plexin_cytoplasmic_RasGAP_dom		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	77	173	0	0.00	0	0	C	NM_025179	0	0		208216462	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	39	189	33.9	25.30	20	64	SNP	1	T
PLXNA2	5362	genome.wustl.edu	37	1	208219374	208219374	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:208219374C>T	ENST00000367033.3	-	18	4101	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1115	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCATCTGGGCGTTCCACAGT	0.493																																							0											0													145.0	138.0	141.0					1																	208219374		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3344G>A	1.37:g.208219374C>T	ENSP00000356000:p.Arg1115His		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1115H	ENST00000367033.3	37	c.3344	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968560	0.34754	.	.	ENSG00000076356	ENST00000367033	T	0.58797	0.31	4.34	4.34	0.51931	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.053822	0.64402	D	0.000001	T	0.41719	0.1171	N	0.17278	0.47	0.54753	D	0.999985	B	0.16802	0.019	B	0.10450	0.005	T	0.25082	-1.0142	10	0.17832	T	0.49	.	17.2333	0.86991	0.0:1.0:0.0:0.0	.	1115	O75051	PLXA2_HUMAN	H	1115	ENSP00000356000:R1115H	ENSP00000356000:R1115H	R	-	2	0	PLXNA2	206285997	1.000000	0.71417	0.998000	0.56505	0.646000	0.38490	5.651000	0.67951	2.138000	0.66242	0.563000	0.77884	CGC	0	superfamily_Ig_E-set,smart_IPT		0.493	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	protein_coding	OTTHUMT00000088932.6	48	200	0	0.00	0	0	C	NM_025179	0	0		208219374	-1	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	30	222	18.92	15.41	7	41	SNP	0.998	T
DIEXF	27042	genome.wustl.edu	37	1	210024584	210024584	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:210024584A>G	ENST00000491415.2	+	12	2120	c.2063A>G	c.(2062-2064)tAt>tGt	p.Y688C		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	688					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			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						CTGATTTTCTATGAACTGCCG	0.418																																							0											0													67.0	64.0	65.0					1																	210024584		2203	4300	6503	SO:0001583	missense	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.2063A>G	1.37:g.210024584A>G	ENSP00000419005:p.Tyr688Cys		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.Y688C	ENST00000491415.2	37	c.2063	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447112	0.84101	.	.	ENSG00000117597	ENST00000491415	T	0.68025	-0.3	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.85509	0.5713	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88476	0.3065	10	0.62326	D	0.03	-3.4363	16.0303	0.80572	1.0:0.0:0.0:0.0	.	688	Q68CQ4	DIEXF_HUMAN	C	688	ENSP00000419005:Y688C	ENSP00000419005:Y688C	Y	+	2	0	DIEXF	208091207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.069000	0.93967	2.190000	0.69967	0.533000	0.62120	TAT	0	pfam_Digest_organ_expansion_fac-prd		0.418	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	protein_coding	OTTHUMT00000089127.2	68	187	0	0.00	0	0	A	NM_014388	0	0		210024584	1	no_errors	ENST00000491415	ensembl	human	known	74_37	missense	32	207	28.89	24.18	13	66	SNP	1	G
DTL	51514	genome.wustl.edu	37	1	212273860	212273860	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:212273860T>C	ENST00000366991.4	+	14	1842	c.1528T>C	c.(1528-1530)Tcc>Ccc	p.S510P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.S468P|RN7SKP98_ENST00000517070.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	510					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCGAACACCTTCCTCATCACC	0.532																																							0											0													79.0	80.0	80.0					1																	212273860		2203	4300	6503	SO:0001583	missense	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1528T>C	1.37:g.212273860T>C	ENSP00000355958:p.Ser510Pro		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S510P	ENST00000366991.4	37	c.1528	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.164639	0.57476	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.72835	-0.62;-0.69	5.63	5.63	0.86233	.	0.558548	0.21240	N	0.077824	T	0.68595	0.3018	L	0.44542	1.39	0.28928	N	0.891745	D;D;D	0.57571	0.975;0.98;0.958	P;P;B	0.50314	0.637;0.543;0.434	T	0.66276	-0.5964	10	0.40728	T	0.16	-50.1301	9.8069	0.40799	0.2648:0.0:0.0:0.7352	.	468;510;468	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	P	510;468;189	ENSP00000355958:S510P;ENSP00000443870:S468P	ENSP00000355958:S510P	S	+	1	0	DTL	210340483	0.346000	0.24844	1.000000	0.80357	0.912000	0.54170	2.198000	0.42705	2.145000	0.66743	0.533000	0.62120	TCC	0	NULL		0.532	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	protein_coding	OTTHUMT00000090182.1	14	232	0	0.00	0	0	T	NM_016448	0	0		212273860	1	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	18	267	14.29	21.47	3	73	SNP	0.833	C
CCDC185	164127	genome.wustl.edu	37	1	223568377	223568377	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:223568377C>T	ENST00000366875.3	+	1	1663	c.1560C>T	c.(1558-1560)caC>caT	p.H520H		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		520								p.H520H(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAGGAGTCACGTGCACAAGA	0.577																																							0											1	Substitution - coding silent(1)	kidney(1)											101.0	112.0	108.0					1																	223568377		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000366875.3:c.1560C>T	1.37:g.223568377C>T			Q8N746|Q8NA93	Silent	SNP	NULL	p.H520	ENST00000366875.3	37	c.1560	CCDS1537.1	1																																																																																			0	NULL		0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	protein_coding	OTTHUMT00000092718.1	27	85	0	0.00	0	0	C		0	0		223568377	1	no_errors	ENST00000366875	ensembl	human	known	74_37	silent	19	119	36.67	24.68	11	39	SNP	0	T
ACBD3	64746	genome.wustl.edu	37	1	226352529	226352529	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:226352529G>A	ENST00000366812.5	-	3	584	c.530C>T	c.(529-531)gCg>gTg	p.A177V		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	177					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTTGTGGGACGCAACATATGT	0.433																																							0											0													162.0	133.0	143.0					1																	226352529		2203	4300	6503	SO:0001583	missense	0			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.530C>T	1.37:g.226352529G>A	ENSP00000355777:p.Ala177Val		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD	p.A177V	ENST00000366812.5	37	c.530	CCDS1551.1	1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358703	0.41801	.	.	ENSG00000182827	ENST00000366812	T	0.27890	1.64	5.9	4.99	0.66335	.	0.298254	0.41396	D	0.000889	T	0.28830	0.0715	L	0.44542	1.39	0.33286	D	0.562924	B	0.12013	0.005	B	0.04013	0.001	T	0.29852	-0.9998	10	0.42905	T	0.14	-3.2929	15.3192	0.74109	0.0668:0.0:0.9332:0.0	.	177	Q9H3P7	GCP60_HUMAN	V	177	ENSP00000355777:A177V	ENSP00000355777:A177V	A	-	2	0	ACBD3	224419152	0.997000	0.39634	0.013000	0.15412	0.409000	0.31022	6.143000	0.71756	1.517000	0.48917	-0.186000	0.12905	GCG	0	NULL		0.433	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD3	protein_coding	OTTHUMT00000091528.1	74	319	0	0.00	0	0	G	NM_022735	0	0		226352529	-1	no_errors	ENST00000366812	ensembl	human	known	74_37	missense	55	341	18.84	24.05	13	108	SNP	0.581	A
URB2	9816	genome.wustl.edu	37	1	229771119	229771119	+	Silent	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:229771119C>A	ENST00000258243.2	+	4	895	c.759C>A	c.(757-759)tcC>tcA	p.S253S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	253						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TACTGTCATCCTACAAGGAGG	0.582																																							0											0													59.0	61.0	61.0					1																	229771119		2203	4300	6503	SO:0001819	synonymous_variant	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.759C>A	1.37:g.229771119C>A			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.S253	ENST00000258243.2	37	c.759	CCDS31052.1	1																																																																																			0	NULL		0.582	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	protein_coding	OTTHUMT00000095232.1	39	186	0	0.53	0	1	C	NM_014777	0	0		229771119	1	no_errors	ENST00000258243	ensembl	human	known	74_37	silent	22	208	15.38	22.10	4	59	SNP	0.977	A
PCNXL2	80003	genome.wustl.edu	37	1	233296104	233296104	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:233296104G>A	ENST00000258229.9	-	19	3676	c.3442C>T	c.(3442-3444)Cgc>Tgc	p.R1148C	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.R281C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1148						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGATGCTTGCGGAGCTGAGGG	0.463																																							0											0													81.0	79.0	80.0					1																	233296104		1932	4147	6079	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3442C>T	1.37:g.233296104G>A	ENSP00000258229:p.Arg1148Cys		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.R1148C	ENST00000258229.9	37	c.3442	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023994	0.75390	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.20598	2.06	4.81	3.87	0.44632	.	.	.	.	.	T	0.51210	0.1661	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61700	-0.7009	9	0.87932	D	0	.	14.3424	0.66636	0.0:0.0:0.8509:0.1491	.	1148	A6NKB5	PCX2_HUMAN	C	1148;281	ENSP00000258229:R1148C	ENSP00000258229:R1148C	R	-	1	0	PCNXL2	231362727	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.080000	0.50112	1.172000	0.42781	0.650000	0.86243	CGC	0	NULL		0.463	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	44	135	0	0.00	0	0	G	NM_014801	0	0		233296104	-1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	44	184	26.67	14.75	16	32	SNP	1	A
KIAA1804	84451	genome.wustl.edu	37	1	233497906	233497906	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:233497906C>T	ENST00000366624.3	+	5	1680	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	MLK4_ENST00000366623.3_Silent_p.D473D	NM_032435.2	NP_115811.2																					GCGAGATCGACGTGCTGGAGC	0.547																																							0											0													57.0	56.0	57.0					1																	233497906		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000366624.3:c.1419C>T	1.37:g.233497906C>T				Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.D473	ENST00000366624.3	37	c.1419	CCDS1598.1	1																																																																																			0	pirsf_MAPKKK9/10/11		0.547	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	protein_coding	OTTHUMT00000092495.1	47	151	0	0.00	0	0	C		0	0		233497906	1	no_errors	ENST00000366624	ensembl	human	known	74_37	silent	42	171	22.22	24.00	12	54	SNP	1	T
TARBP1	6894	genome.wustl.edu	37	1	234561467	234561467	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:234561467C>T	ENST00000040877.1	-	20	3395	c.3396G>A	c.(3394-3396)atG>atA	p.M1132I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1132					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTTGTGGGACATATTGGAGC	0.294																																							0											0													67.0	72.0	71.0					1																	234561467		2201	4296	6497	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3396G>A	1.37:g.234561467C>T	ENSP00000040877:p.Met1132Ile		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.M1132I	ENST00000040877.1	37	c.3396	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	9.958	1.222120	0.22457	.	.	ENSG00000059588	ENST00000040877	T	0.05139	3.49	5.02	-3.41	0.04839	Armadillo-type fold (1);	1.144440	0.06067	N	0.659501	T	0.01661	0.0053	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	10	0.18710	T	0.47	-8.3523	1.4555	0.02384	0.1976:0.3441:0.1066:0.3518	.	1132	Q13395	TARB1_HUMAN	I	1132	ENSP00000040877:M1132I	ENSP00000040877:M1132I	M	-	3	0	TARBP1	232628090	0.000000	0.05858	0.101000	0.21167	0.963000	0.63663	-1.722000	0.01868	-0.375000	0.07955	0.591000	0.81541	ATG	0	superfamily_ARM-type_fold		0.294	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	protein_coding	OTTHUMT00000092616.1	109	295	0	0.00	0	0	C	NM_005646	0	0		234561467	-1	no_errors	ENST00000040877	ensembl	human	novel	74_37	missense	109	307	24.83	20.05	36	77	SNP	0.179	T
ZP4	57829	genome.wustl.edu	37	1	238053867	238053867	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:238053867A>G	ENST00000366570.4	-	1	227	c.69T>C	c.(67-69)ccT>ccC	p.P23P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	23					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGGTGCCTCAGGCTTATGCT	0.532																																					NSCLC(166;160 2029 11600 18754 19936)		0											0													58.0	55.0	56.0					1																	238053867		2203	4300	6503	SO:0001819	synonymous_variant	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.69T>C	1.37:g.238053867A>G			B2RAE1	Silent	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.P23	ENST00000366570.4	37	c.69	CCDS1615.1	1																																																																																			0	NULL		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	protein_coding	OTTHUMT00000095476.1	24	100	0	0.00	0	0	A		0	0		238053867	-1	no_errors	ENST00000366570	ensembl	human	known	74_37	silent	19	102	20.83	19.38	5	25	SNP	0	G
SH3BP5L	80851	genome.wustl.edu	37	1	249106496	249106496	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:249106496C>T	ENST00000366472.5	-	7	2014	c.785G>A	c.(784-786)cGt>cAt	p.R262H	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R230H|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	262										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTCCAGGTTACGAAGGGCCAC	0.687																																							0											0													59.0	59.0	59.0					1																	249106496		2203	4300	6503	SO:0001583	missense	0			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.785G>A	1.37:g.249106496C>T	ENSP00000355428:p.Arg262His		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	pfam_SH3-bd_5	p.R262H	ENST00000366472.5	37	c.785	CCDS31126.1	1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691429	0.68271	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	D	0.81579	-1.51	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.61036	1.89	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.138;1.0	D;D;B;D	0.87578	0.998;0.998;0.062;0.998	D	0.87832	0.2645	10	0.52906	T	0.07	-27.6462	14.9144	0.70785	0.0:1.0:0.0:0.0	.	230;155;262;120	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	H	262;230	ENSP00000412203:R230H	ENSP00000355428:R262H	R	-	2	0	SH3BP5L	247073119	0.969000	0.33509	1.000000	0.80357	0.944000	0.59088	5.031000	0.64134	2.456000	0.83038	0.467000	0.42956	CGT	0	pfam_SH3-bd_5		0.687	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	protein_coding	OTTHUMT00000097140.1	33	99	0	0.00	0	0	C	NM_030645	0	0		249106496	-1	no_errors	ENST00000366472	ensembl	human	known	74_37	missense	19	117	9.52	18.18	2	26	SNP	1	T
TPO	7173	genome.wustl.edu	37	2	1437290	1437290	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:1437290T>A	ENST00000345913.4	+	4	351	c.260T>A	c.(259-261)aTt>aAt	p.I87N	TPO_ENST00000329066.4_Missense_Mutation_p.I87N|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.I87N|TPO_ENST00000539820.1_Missense_Mutation_p.I87N|TPO_ENST00000337415.3_Missense_Mutation_p.I87N|TPO_ENST00000349624.3_Missense_Mutation_p.I87N|TPO_ENST00000382198.1_Missense_Mutation_p.I87N|TPO_ENST00000382269.3_Missense_Mutation_p.I87N|TPO_ENST00000382201.3_Missense_Mutation_p.I87N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	87					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGCGGAGTGATTGCCCGAGCA	0.428																																							0											0													118.0	109.0	112.0					2																	1437290		2203	4300	6503	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.260T>A	2.37:g.1437290T>A	ENSP00000318820:p.Ile87Asn		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.I87N	ENST00000345913.4	37	c.260	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	T	9.859	1.195716	0.22037	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	4.26	3.09	0.35607	.	0.740911	0.13149	N	0.410057	T	0.57403	0.2051	L	0.47716	1.5	0.09310	N	1	D;P;D;D;P	0.67145	0.973;0.899;0.996;0.973;0.954	P;P;P;P;P	0.58391	0.807;0.667;0.838;0.807;0.646	T	0.43589	-0.9382	10	0.52906	T	0.07	-5.971	7.0759	0.25203	0.0:0.1134:0.0:0.8866	.	87;87;87;87;87	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	N	87;87;87;87;87;87;87;87;87;87;16	ENSP00000371704:I87N;ENSP00000337263:I87N;ENSP00000318820:I87N;ENSP00000263886:I87N;ENSP00000332044:I87N;ENSP00000444840:I87N;ENSP00000329869:I87N;ENSP00000371636:I87N;ENSP00000390994:I87N;ENSP00000371633:I87N;ENSP00000405788:I16N	ENSP00000329869:I87N	I	+	2	0	TPO	1416297	0.887000	0.30362	0.003000	0.11579	0.002000	0.02628	2.566000	0.45948	0.603000	0.29913	0.460000	0.39030	ATT	0	NULL		0.428	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	protein_coding	OTTHUMT00000206594.2	55	211	0	0.00	0	0	T	NM_000547	0	0		1437290	1	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	46	158	26.98	30.70	17	70	SNP	0.136	A
MYT1L	23040	genome.wustl.edu	37	2	1914112	1914112	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:1914112C>T	ENST00000399161.2	-	13	2464	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G571R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	573					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCGGGCATCCGGAGAGGCTG	0.592																																							0											0													51.0	58.0	56.0					2																	1914112		2040	4185	6225	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1717G>A	2.37:g.1914112C>T	ENSP00000382114:p.Gly573Arg		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.G573R	ENST00000399161.2	37	c.1717		2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933430	0.92458	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.70045	-0.43;-0.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.86268	0.5892	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88819	0.3297	10	0.72032	D	0.01	-26.4979	19.1056	0.93293	0.0:1.0:0.0:0.0	.	573;571	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	R	573;519;571	ENSP00000382114:G573R;ENSP00000396103:G571R	ENSP00000295067:G519R	G	-	1	0	MYT1L	1893119	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.511000	0.81718	2.600000	0.87896	0.655000	0.94253	GGA	0	pfam_Znf_C2HC		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	protein_coding	OTTHUMT00000322493.1	54	112	0	0.00	0	0	C	NM_015025	0	0		1914112	-1	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	22	87	42.11	30.95	16	39	SNP	1	T
LINC00299	339789	genome.wustl.edu	37	2	8439870	8439870	+	lincRNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:8439870C>T	ENST00000442956.1	-	0	506							Q6ZSB3	CB046_HUMAN	long intergenic non-protein coding RNA 299																		acatcgaagtcgtgggtaaaa	0.453																																							0											0													185.0	157.0	166.0					2																	8439870		692	1591	2283			0			AK127578		2p25.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000236790	ENSG00000236790		"""Long non-coding RNAs"""	27940	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 46"", ""non-protein coding RNA 299"""	C2orf46, NCRNA00299		12477932	Standard	NR_034135		Approved	FLJ45673	uc002qyy.1	Q6ZSB3	OTTHUMG00000112455		2.37:g.8439870C>T				RNA	SNP	0	NULL	ENST00000442956.1	37	NULL		2																																																																																			0	0		0.453	LINC00299-001	KNOWN	basic	lincRNA	LINC00299	lincRNA	OTTHUMT00000231926.3	63	177	0	0.56	0	1	C	NR_034135	0	0		8439870	-1	no_errors	ENST00000430192	ensembl	human	known	74_37	rna	38	130	24	32.12	12	62	SNP	0	T
NT5C1B	93034	genome.wustl.edu	37	2	18765849	18765849	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:18765849G>A	ENST00000359846.2	-	5	911	c.834C>T	c.(832-834)taC>taT	p.Y278Y	NT5C1B-RDH14_ENST00000532967.1_Silent_p.Y278Y|NT5C1B_ENST00000304081.4_Silent_p.Y218Y|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Silent_p.Y278Y	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	278					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.Y278Y(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGGCAGCCTCGTAGTCGTCCT	0.697																																							0											1	Substitution - coding silent(1)	large_intestine(1)											17.0	19.0	18.0					2																	18765849		2201	4300	6501	SO:0001819	synonymous_variant	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.834C>T	2.37:g.18765849G>A			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	NULL	p.T196M	ENST00000359846.2	37	c.587	CCDS33150.1	2																																																																																			0	NULL		0.697	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	protein_coding	OTTHUMT00000323822.1	22	45	0	0.00	0	0	G		0	0		18765849	-1	no_errors	ENST00000406971	ensembl	human	known	74_37	missense	21	23	25	39.47	7	15	SNP	0	A
NT5C1B	93034	genome.wustl.edu	37	2	18766070	18766070	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:18766070G>A	ENST00000359846.2	-	5	690	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R205C|NT5C1B_ENST00000304081.4_Missense_Mutation_p.R145C|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R205C	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	205					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTGGTGCTGCGCCGGGAGCCA	0.711																																							0											0													17.0	20.0	19.0					2																	18766070		2196	4287	6483	SO:0001583	missense	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.613C>T	2.37:g.18766070G>A	ENSP00000352904:p.Arg205Cys		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.R205C	ENST00000359846.2	37	c.613	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944643	0.73672	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.91180	-2.8	4.21	2.35	0.29111	.	1.199420	0.06297	N	0.700229	D	0.90645	0.7066	L	0.29908	0.895	0.28971	N	0.889228	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P;P	0.62014	0.855;0.855;0.792;0.855;0.684;0.897;0.792;0.897	T	0.81470	-0.0918	10	0.87932	D	0	-9.5118	6.2754	0.20977	0.1015:0.0:0.7116:0.1869	.	188;222;145;188;147;145;205;205	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	C	205;147;145;205	ENSP00000412639:R147C	ENSP00000305979:R145C	R	-	1	0	NT5C1B-RDH14;NT5C1B	18629551	0.195000	0.23338	0.828000	0.32881	0.058000	0.15608	1.502000	0.35704	1.043000	0.40175	0.462000	0.41574	CGC	0	NULL		0.711	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	protein_coding	OTTHUMT00000323822.1	69	75	0	0.00	0	0	G		0	0		18766070	-1	no_errors	ENST00000359846	ensembl	human	known	74_37	missense	34	60	38.18	32.58	21	29	SNP	0.695	A
GAREML	150946	genome.wustl.edu	37	2	26410768	26410768	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:26410768C>T	ENST00000401533.2	+	6	2397	c.2267C>T	c.(2266-2268)cCa>cTa	p.P756L	GAREML_ENST00000407684.1_Missense_Mutation_p.P546L	NM_001168241.1	NP_001161713.1	Q75VX8	GAREL_HUMAN	GRB2 associated, regulator of MAPK1-like	756	Pro-rich.					extracellular vesicular exosome (GO:0070062)											GTCCCCACCCCACTGTCACCA	0.657																																							0											0													15.0	19.0	17.0					2																	26410768		692	1591	2283	SO:0001583	missense	0			AK090454, AB015349, AB124552	CCDS54336.1, CCDS54337.1	2p23.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000157833	ENSG00000157833			27172	protein-coding gene	gene with protein product			"""family with sequence similarity 59, member B"""	FAM59B			Standard	NM_001168241		Approved	KIAA2038, FLJ00375	uc002rgw.2	Q75VX8	OTTHUMG00000151935	ENST00000401533.2:c.2267C>T	2.37:g.26410768C>T	ENSP00000384593:p.Pro756Leu		B5MC97|B7WNK9|Q8NF27|Q9UIK8	Missense_Mutation	SNP	superfamily_SAM/pointed	p.P756L	ENST00000401533.2	37	c.2267	CCDS54336.1	2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594030	0.46214	.	.	ENSG00000157833	ENST00000401533;ENST00000407684	T;T	0.12672	2.66;2.66	5.24	4.36	0.52297	.	0.076625	0.50627	D	0.000114	T	0.18087	0.0434	L	0.41236	1.265	0.41749	D	0.989658	P;B	0.52842	0.956;0.361	P;B	0.50082	0.63;0.102	T	0.01111	-1.1448	10	0.87932	D	0	-0.867	11.491	0.50381	0.0:0.9118:0.0:0.0882	.	546;756	B7WNK9;Q75VX8	.;FA59B_HUMAN	L	756;546	ENSP00000384593:P756L;ENSP00000384581:P546L	ENSP00000384593:P756L	P	+	2	0	FAM59B	26264272	0.047000	0.20315	0.152000	0.22495	0.998000	0.95712	1.102000	0.31050	1.205000	0.43262	0.655000	0.94253	CCA	0	NULL		0.657	GAREML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAREML	protein_coding	OTTHUMT00000324498.2	62	95	0	0.00	0	0	C	NM_001168241	0	0		26410768	1	no_errors	ENST00000401533	ensembl	human	known	74_37	missense	39	89	36.07	25.21	22	30	SNP	0.888	T
OTOF	9381	genome.wustl.edu	37	2	26700330	26700330	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:26700330C>T	ENST00000272371.2	-	20	2486	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	OTOF_ENST00000403946.3_Missense_Mutation_p.R787H|OTOF_ENST00000339598.3_Missense_Mutation_p.R40H|OTOF_ENST00000338581.6_Missense_Mutation_p.R40H|OTOF_ENST00000402415.3_Missense_Mutation_p.R97H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	787					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCTGGTGCGGGATGAGTG	0.667																																					GBM(102;732 1451 20652 24062 31372)		0											0													35.0	34.0	34.0					2																	26700330		2171	4288	6459	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2360G>A	2.37:g.26700330C>T	ENSP00000272371:p.Arg787His		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R787H	ENST00000272371.2	37	c.2360	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272207	0.59649	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80824	-1.17;-1.17;-1.13;-1.42;-1.42	4.65	3.76	0.43208	.	0.122200	0.53938	D	0.000060	T	0.81479	0.4831	M	0.62723	1.935	0.45183	D	0.998198	P;P;D;P	0.69078	0.798;0.75;0.997;0.638	B;P;P;B	0.56042	0.138;0.482;0.79;0.299	T	0.77227	-0.2665	10	0.14656	T	0.56	-12.6998	9.2512	0.37555	0.0:0.8291:0.0:0.1709	.	787;40;97;40	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	40;40;97;787;787	ENSP00000345137:R40H;ENSP00000344521:R40H;ENSP00000383906:R97H;ENSP00000272371:R787H;ENSP00000385255:R787H	ENSP00000272371:R787H	R	-	2	0	OTOF	26553834	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.781000	0.55394	2.132000	0.65825	0.511000	0.50034	CGC	0	NULL		0.667	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	40	87	0	0.00	0	0	C		0	0		26700330	-1	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	15	62	40	26.74	10	23	SNP	0.944	T
KCNK3	3777	genome.wustl.edu	37	2	26950774	26950774	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:26950774G>A	ENST00000302909.3	+	2	648	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	GTGCATCGGCGCCGCCGCCTT	0.637																																					GBM(80;1457 1631 27100 45946)		0											0													60.0	54.0	56.0					2																	26950774		2203	4300	6503	SO:0001583	missense	0			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.523G>A	2.37:g.26950774G>A	ENSP00000306275:p.Ala175Thr		Q53SU2	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl	p.A175T	ENST00000302909.3	37	c.523	CCDS1727.1	2	.	.	.	.	.	.	.	.	.	.	g	26.7	4.763450	0.89932	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.33438	1.41	5.26	5.26	0.73747	Ion transport 2 (1);	0.055970	0.64402	D	0.000001	T	0.55257	0.1909	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.56086	-0.8037	10	0.56958	D	0.05	.	16.7244	0.85417	0.0:0.0:1.0:0.0	.	175	O14649	KCNK3_HUMAN	T	52;175	ENSP00000306275:A175T	ENSP00000306275:A175T	A	+	1	0	KCNK3	26804278	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.787000	0.99055	2.616000	0.88540	0.556000	0.70494	GCC	0	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK		0.637	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK3	protein_coding	OTTHUMT00000246861.2	15	15	0	0.00	0	0	G	NM_002246	0	0		26950774	1	no_errors	ENST00000302909	ensembl	human	known	74_37	missense	15	13	25	35.00	5	7	SNP	1	A
AGBL5	60509	genome.wustl.edu	37	2	27281449	27281449	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:27281449G>A	ENST00000360131.4	+	10	2012	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	AGBL5-IT1_ENST00000411862.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R618Q	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	618					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGCCTTCGAACTCCACCC	0.512																																							0											0													58.0	55.0	56.0					2																	27281449		2203	4300	6503	SO:0001583	missense	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1853G>A	2.37:g.27281449G>A	ENSP00000353249:p.Arg618Gln		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.R618Q	ENST00000360131.4	37	c.1853	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752770	0.69648	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.15256	2.46;2.44	5.79	5.79	0.91817	.	0.188888	0.46145	D	0.000301	T	0.23926	0.0579	L	0.47716	1.5	0.09310	N	0.999997	D;D	0.56746	0.977;0.973	P;P	0.48189	0.57;0.544	T	0.09271	-1.0682	10	0.31617	T	0.26	-19.7323	17.813	0.88622	0.0:0.0:1.0:0.0	.	618;618	Q8NDL9;Q8NDL9-3	CBPC5_HUMAN;.	Q	618	ENSP00000323681:R618Q;ENSP00000353249:R618Q	ENSP00000323681:R618Q	R	+	2	0	AGBL5	27134953	0.765000	0.28485	0.598000	0.28837	0.608000	0.37181	2.462000	0.45049	2.733000	0.93635	0.655000	0.94253	CGA	0	NULL		0.512	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	protein_coding	OTTHUMT00000309033.1	31	222	0	0.00	0	0	G	NM_021831	0	0		27281449	1	no_errors	ENST00000360131	ensembl	human	known	74_37	missense	7	164	41.67	32.51	5	79	SNP	0.215	A
EMILIN1	11117	genome.wustl.edu	37	2	27306067	27306067	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:27306067A>G	ENST00000380320.4	+	4	2127	c.1628A>G	c.(1627-1629)cAg>cGg	p.Q543R		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	543					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGGCTCCAGGATCGTGTG	0.672																																							0											0													34.0	34.0	34.0					2																	27306067		2203	4300	6503	SO:0001583	missense	0			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1628A>G	2.37:g.27306067A>G	ENSP00000369677:p.Gln543Arg		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.Q543R	ENST00000380320.4	37	c.1628	CCDS1733.1	2	.	.	.	.	.	.	.	.	.	.	A	0.044	-1.272839	0.01421	.	.	ENSG00000138080	ENST00000380320	T	0.61859	0.07	4.48	1.98	0.26296	.	0.710393	0.13057	N	0.417203	T	0.27866	0.0686	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.20046	T	0.44	-7.4525	5.2843	0.15692	0.7502:0.0:0.2498:0.0	.	543	Q9Y6C2	EMIL1_HUMAN	R	543	ENSP00000369677:Q543R	ENSP00000369677:Q543R	Q	+	2	0	EMILIN1	27159571	0.981000	0.34729	0.996000	0.52242	0.453000	0.32348	1.420000	0.34804	0.723000	0.32274	0.459000	0.35465	CAG	0	NULL		0.672	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	protein_coding	OTTHUMT00000214185.1	89	76	0	0.00	0	0	A	NM_007046	0	0		27306067	1	no_errors	ENST00000380320	ensembl	human	known	74_37	missense	58	71	23.68	24.47	18	23	SNP	0.266	G
CGREF1	10669	genome.wustl.edu	37	2	27327327	27327327	+	Intron	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:27327327G>A	ENST00000260595.5	-	2	282				CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.R92C			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACACAAGCGCATTTTCTGC	0.547																																							0											0																																										SO:0001627	intron_variant	0			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.11-82C>T	2.37:g.27327327G>A			A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.R92C	ENST00000260595.5	37	c.274		2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511630	0.27036	.	.	ENSG00000138028	ENST00000404694	D	0.81579	-1.51	3.72	-1.19	0.09585	.	.	.	.	.	T	0.63462	0.2513	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.44390	-0.9331	7	.	.	.	.	7.369	0.26790	0.5314:0.0:0.4686:0.0	.	92	B5MCC9	.	C	92	ENSP00000385574:R92C	.	R	-	1	0	CGREF1	27180831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.470000	0.06639	-0.258000	0.09446	-0.300000	0.09419	CGC	0	NULL		0.547	CGREF1-201	KNOWN	basic	protein_coding	CGREF1	protein_coding		41	137	0	0.00	0	0	G	NM_006569	0	0		27327327	-1	no_errors	ENST00000404694	ensembl	human	novel	74_37	missense	24	97	17.24	26.52	5	35	SNP	0	A
FAM98A	25940	genome.wustl.edu	37	2	33810307	33810307	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:33810307C>A	ENST00000238823.8	-	8	1233	c.1093G>T	c.(1093-1095)Ggc>Tgc	p.G365C	FAM98A_ENST00000441530.2_Missense_Mutation_p.G170C|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	366	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TGGTCATAGCCACCACGTCCA	0.587																																							0											0													186.0	151.0	163.0					2																	33810307		2203	4300	6503	SO:0001583	missense	0				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1093G>T	2.37:g.33810307C>A	ENSP00000238823:p.Gly365Cys		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.G365C	ENST00000238823.8	37	c.1093	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363952	0.24684	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.93366	0.6;-3.21	5.4	-0.6	0.11642	.	0.112095	0.64402	D	0.000012	T	0.80869	0.4706	N	0.08118	0	0.43448	D	0.995636	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.001	T	0.66093	-0.6009	10	0.66056	D	0.02	-1.279	3.295	0.06963	0.1102:0.4763:0.2162:0.1973	.	366;196;365;203	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	C	365;366;170	ENSP00000238823:G365C;ENSP00000408716:G170C	ENSP00000238823:G365C	G	-	1	0	FAM98A	33663811	0.012000	0.17670	0.995000	0.50966	0.843000	0.47879	0.359000	0.20233	-0.032000	0.13758	0.313000	0.20887	GGC	0	NULL		0.587	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	protein_coding	OTTHUMT00000325457.2	40	134	0	0.00	0	0	C	NM_015475	0	0		33810307	-1	no_errors	ENST00000238823	ensembl	human	known	74_37	missense	24	130	17.24	31.94	5	61	SNP	0.979	A
PPP1R21	129285	genome.wustl.edu	37	2	48741958	48741958	+	3'UTR	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:48741958G>A	ENST00000294952.8	+	0	2575				PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000281394.4_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CTGAGACCACGTCCATGCTGG	0.443																																							0											0													78.0	65.0	69.0					2																	48741958		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.*75G>A	2.37:g.48741958G>A			B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	RNA	SNP	0	NULL	ENST00000294952.8	37	NULL	CCDS46278.1	2																																																																																			0	0		0.443	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	protein_coding	OTTHUMT00000251238.4	43	111	0	0.00	0	0	G	NM_152994	0	0		48741958	1	no_errors	ENST00000476199	ensembl	human	known	74_37	rna	31	86	11.43	24.56	4	28	SNP	0	A
PSME4	23198	genome.wustl.edu	37	2	54163925	54163925	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:54163925C>T	ENST00000404125.1	-	6	790	c.735G>A	c.(733-735)gtG>gtA	p.V245V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAGATTTTGCACTGAAACCC	0.363																																							0											0													112.0	120.0	117.0					2																	54163925		2203	4300	6503	SO:0001819	synonymous_variant	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.735G>A	2.37:g.54163925C>T			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.V245	ENST00000404125.1	37	c.735	CCDS33197.2	2																																																																																			0	NULL		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	308	273	0	0.00	0	0	C	XM_040158	0	0		54163925	-1	no_errors	ENST00000404125	ensembl	human	known	74_37	silent	190	220	29.37	31.79	79	103	SNP	0.998	T
DYSF	8291	genome.wustl.edu	37	2	71825779	71825779	+	Silent	SNP	G	G	A	rs139897804		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:71825779G>A	ENST00000258104.3	+	33	3883	c.3606G>A	c.(3604-3606)acG>acA	p.T1202T	DYSF_ENST00000394120.2_Silent_p.T1203T|DYSF_ENST00000409762.1_Silent_p.T1219T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.T1202T|DYSF_ENST00000410020.3_Silent_p.T1220T|DYSF_ENST00000409366.1_Silent_p.T1203T|DYSF_ENST00000410041.1_Silent_p.T1220T|DYSF_ENST00000409744.1_Silent_p.T1189T|DYSF_ENST00000409582.3_Silent_p.T1219T|DYSF_ENST00000409651.1_Silent_p.T1234T|DYSF_ENST00000413539.2_Silent_p.T1233T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1202	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGACCAGACGCTCATCTTCT	0.572																																							0											0								G	,,,,,,,,,,,,,	0,4406		0,0,2203	99.0	92.0	94.0		3609,3564,3564,3606,3699,3657,3657,3702,3609,3567,3660,3567,3660,3606	-11.3	0.2	2	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,	1203/2082,1188/2067,1188/2088,1202/2102,1233/2112,1219/2098,1219/2119,1234/2113,1203/2103,1189/2089,1220/2099,1189/2068,1220/2120,1202/2081	71825779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3606G>A	2.37:g.71825779G>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.T1233	ENST00000258104.3	37	c.3699	CCDS1918.1	2																																																																																			0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	29	163	0	0.00	0	0	G	NM_003494	rs139897804	G->A		71825779	1	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	19	155	32.14	30.67	9	69	SNP	0.065	A
TET3	200424	genome.wustl.edu	37	2	74274650	74274650	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74274650C>T	ENST00000409262.3	+	1	1201	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	401					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACCACAAGCGCAGCCTCTT	0.647																																							0											0													58.0	75.0	69.0					2																	74274650		2153	4264	6417	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1201C>T	2.37:g.74274650C>T	ENSP00000386869:p.Arg401Cys		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.R401C	ENST00000409262.3	37	c.1201	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072808	0.55646	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.50813	0.73;1.82	5.29	5.29	0.74685	.	.	.	.	.	T	0.59211	0.2177	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.61297	-0.7091	9	0.59425	D	0.04	.	18.0716	0.89408	0.0:1.0:0.0:0.0	.	401	O43151	TET3_HUMAN	C	443;401;401	ENSP00000307803:R443C;ENSP00000386869:R401C	ENSP00000233310:R401C	R	+	1	0	TET3	74128158	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	3.498000	0.53302	2.635000	0.89317	0.561000	0.74099	CGC	0	NULL		0.647	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	33	111	0	0.00	0	0	C		0	0		74274650	1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	20	72	33.33	24.21	10	23	SNP	1	T
SLC4A5	57835	genome.wustl.edu	37	2	74474314	74474314	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74474314G>A	ENST00000377634.4	-	19	2307	c.1908C>T	c.(1906-1908)acC>acT	p.T636T	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.T572T|SLC4A5_ENST00000423644.1_Silent_p.T636T|SLC4A5_ENST00000377632.1_Silent_p.T636T|SLC4A5_ENST00000394019.2_Silent_p.T636T|SLC4A5_ENST00000346834.4_Silent_p.T636T|SLC4A5_ENST00000358683.4_Silent_p.T572T|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.T636T					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCCTCCTCGGTGAAGCGGG	0.488																																							0											0													195.0	194.0	194.0					2																	74474314		2203	4300	6503	SO:0001819	synonymous_variant	0			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1908C>T	2.37:g.74474314G>A				Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T636	ENST00000377634.4	37	c.1908	CCDS1936.1	2																																																																																			0	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk		0.488	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	39	140	0	0.00	0	0	G		0	0		74474314	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	silent	33	101	19.51	23.88	8	32	SNP	0.026	A
SLC4A5	57835	genome.wustl.edu	37	2	74512935	74512935	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74512935A>G	ENST00000377634.4	-	8	765	c.366T>C	c.(364-366)caT>caC	p.H122H	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Silent_p.H58H|SLC4A5_ENST00000423644.1_Silent_p.H122H|SLC4A5_ENST00000377632.1_Silent_p.H122H|SLC4A5_ENST00000394019.2_Silent_p.H122H|SLC4A5_ENST00000346834.4_Silent_p.H122H|SLC4A5_ENST00000358683.4_Silent_p.H58H|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Silent_p.H122H					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGTCTCCGTCATGCTGCAGAG	0.622																																							0											0													58.0	46.0	50.0					2																	74512935		2203	4300	6503	SO:0001819	synonymous_variant	0			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.366T>C	2.37:g.74512935A>G				Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.H122	ENST00000377634.4	37	c.366	CCDS1936.1	2																																																																																			0	superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.622	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	protein_coding	OTTHUMT00000206583.3	35	75	0	0.00	0	0	A		0	0		74512935	-1	no_errors	ENST00000357822	ensembl	human	known	74_37	silent	12	66	33.33	34.00	6	34	SNP	0.455	G
TCF7L1	83439	genome.wustl.edu	37	2	85532524	85532524	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:85532524C>T	ENST00000282111.3	+	8	1262	c.987C>T	c.(985-987)agC>agT	p.S329S		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	329					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CTGCAGTGAGCGTGTAAGTAA	0.637																																							0											0													34.0	34.0	34.0					2																	85532524		2203	4300	6503	SO:0001819	synonymous_variant	0			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.987C>T	2.37:g.85532524C>T			Q53R97|Q6PD70|Q9NP00	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S329	ENST00000282111.3	37	c.987	CCDS1971.1	2																																																																																			0	superfamily_HMG_box_dom		0.637	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	protein_coding	OTTHUMT00000252301.2	37	90	0	0.00	0	0	C	NM_031283	0	0		85532524	1	no_errors	ENST00000282111	ensembl	human	known	74_37	silent	16	45	46.67	27.42	14	17	SNP	1	T
POLR1A	25885	genome.wustl.edu	37	2	86325826	86325826	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:86325826G>A	ENST00000263857.6	-	3	718	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	POLR1A_ENST00000409681.1_Missense_Mutation_p.R114W			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	114					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ATCACGGCCCGGGGACAAGTC	0.507																																							0											0													102.0	106.0	105.0					2																	86325826		1949	4142	6091	SO:0001583	missense	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.340C>T	2.37:g.86325826G>A	ENSP00000263857:p.Arg114Trp		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.R114W	ENST00000263857.6	37	c.340	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947618	0.73787	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.23147	1.92;1.92	5.39	5.39	0.77823	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.70595	2.14	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.55503	-0.8131	10	0.72032	D	0.01	-29.7282	19.1526	0.93495	0.0:0.0:1.0:0.0	.	114;114	B9ZVN9;O95602	.;RPA1_HUMAN	W	114	ENSP00000263857:R114W;ENSP00000386300:R114W	ENSP00000263857:R114W	R	-	1	2	POLR1A	86179337	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.552000	0.60747	2.524000	0.85096	0.650000	0.86243	CGG	0	pfam_RNA_pol_Rpb1_1		0.507	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	protein_coding	OTTHUMT00000329830.2	42	156	0	0.00	0	0	G	NM_015425	0	0		86325826	-1	no_errors	ENST00000263857	ensembl	human	known	74_37	missense	45	154	28.57	26.76	18	57	SNP	0.998	A
EIF5B	9669	genome.wustl.edu	37	2	100009524	100009524	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:100009524T>G	ENST00000289371.6	+	18	3045	c.2843T>G	c.(2842-2844)cTt>cGt	p.L948R		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	948					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTACCCCTCCTTGTGGCTTAT	0.373																																					Colon(162;2388 2567 2705 3444)		0											0													84.0	89.0	87.0					2																	100009524		1800	4075	5875	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2843T>G	2.37:g.100009524T>G	ENSP00000289371:p.Leu948Arg		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.L948R	ENST00000289371.6	37	c.2843	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	T	27.5	4.838314	0.91117	.	.	ENSG00000158417	ENST00000289371	T	0.51071	0.72	5.84	5.84	0.93424	.	.	.	.	.	T	0.53916	0.1826	N	0.25647	0.755	0.80722	D	1	D	0.59767	0.986	D	0.63877	0.919	T	0.50767	-0.8789	8	.	.	.	-10.6857	16.2167	0.82231	0.0:0.0:0.0:1.0	.	948	O60841	IF2P_HUMAN	R	948	ENSP00000289371:L948R	.	L	+	2	0	EIF5B	99375956	1.000000	0.71417	0.985000	0.45067	0.974000	0.67602	7.963000	0.87922	2.231000	0.72958	0.533000	0.62120	CTT	0	NULL		0.373	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	protein_coding	OTTHUMT00000330364.2	296	291	0	0.00	0	0	T	NM_015904	0	0		100009524	1	no_errors	ENST00000289371	ensembl	human	known	74_37	missense	148	224	26.6	28.21	54	88	SNP	1	G
RGPD4	285190	genome.wustl.edu	37	2	108443524	108443524	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:108443524G>A	ENST00000408999.3	+	1	132	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	AC096655.2_ENST00000457647.2_lincRNA|RGPD4_ENST00000354986.4_Missense_Mutation_p.A19T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	19					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGGGCTCCGCCCCGTCGCC	0.711																																							0											0													41.0	61.0	55.0					2																	108443524		692	1590	2282	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.55G>A	2.37:g.108443524G>A	ENSP00000386810:p.Ala19Thr		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A19T	ENST00000408999.3	37	c.55	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	2.675	-0.276682	0.05679	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.39406	1.08;1.08	2.33	1.42	0.22433	.	.	.	.	.	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	0.999993	B	0.26120	0.142	B	0.10450	0.005	T	0.18023	-1.0350	9	0.25106	T	0.35	0.0	6.4478	0.21885	0.1575:0.0:0.8425:0.0	.	19	Q7Z3J3	RGPD4_HUMAN	T	19	ENSP00000347081:A19T;ENSP00000386810:A19T	ENSP00000347081:A19T	A	+	1	0	RGPD4	107809956	0.043000	0.20138	0.078000	0.20375	0.008000	0.06430	1.422000	0.34826	0.098000	0.17522	-1.139000	0.01908	GCC	0	NULL		0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	122	12	0	0.00	0	0	G	XM_496581	0	0		108443524	1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	63	14	35.71	17.65	35	3	SNP	0.521	A
MERTK	10461	genome.wustl.edu	37	2	112751863	112751863	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:112751863C>T	ENST00000295408.4	+	9	1589	c.1332C>T	c.(1330-1332)agC>agT	p.S444S	MERTK_ENST00000409780.1_Silent_p.S268S|MERTK_ENST00000421804.2_Silent_p.S444S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	444	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGAATGGCAGCCGAGCTCGGA	0.527																																							0											0													121.0	119.0	120.0					2																	112751863		2203	4300	6503	SO:0001819	synonymous_variant	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1332C>T	2.37:g.112751863C>T			Q9HBB4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S444	ENST00000295408.4	37	c.1332	CCDS2094.1	2																																																																																			0	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	41	142	0	0.70	0	1	C		0	0		112751863	1	no_errors	ENST00000295408	ensembl	human	known	74_37	silent	23	110	25.81	32.52	8	53	SNP	0.944	T
MERTK	10461	genome.wustl.edu	37	2	112786161	112786161	+	Missense_Mutation	SNP	C	C	T	rs202205484		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:112786161C>T	ENST00000295408.4	+	19	2977	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	MERTK_ENST00000409780.1_Missense_Mutation_p.T731I|MERTK_ENST00000421804.2_Missense_Mutation_p.T907I			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	907					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCTCCTGCACTCCCCGCGCT	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18656	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													134.0	132.0	132.0					2																	112786161		2203	4300	6503	SO:0001583	missense	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2720C>T	2.37:g.112786161C>T	ENSP00000295408:p.Thr907Ile		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T907I	ENST00000295408.4	37	c.2720	CCDS2094.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.274	0.050006	0.08243	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780;ENST00000449344	T;T;T;D	0.83837	-0.9;-0.9;-0.89;-1.77	5.62	0.605	0.17553	.	1.284160	0.06058	U	0.657807	T	0.76147	0.3947	L	0.36672	1.1	0.09310	N	1	B	0.22346	0.068	B	0.16722	0.016	T	0.60021	-0.7344	10	0.56958	D	0.05	-0.0532	9.1302	0.36841	0.0987:0.4507:0.3903:0.0603	.	907	Q12866	MERTK_HUMAN	I	907;907;731;231	ENSP00000295408:T907I;ENSP00000389152:T907I;ENSP00000387277:T731I;ENSP00000412660:T231I	ENSP00000295408:T907I	T	+	2	0	MERTK	112502632	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.106000	0.15354	-0.440000	0.07211	-0.795000	0.03280	ACT	0	superfamily_Rhodanese-like_dom		0.552	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	protein_coding	OTTHUMT00000254046.2	37	103	0	0.00	0	0	C		rs202205484	C->T		112786161	1	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	23	111	17.86	17.78	5	24	SNP	0	T
WDR33	55339	genome.wustl.edu	37	2	128467396	128467396	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:128467396G>A	ENST00000322313.4	-	19	3501	c.3343C>T	c.(3343-3345)Cgt>Tgt	p.R1115C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1115					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGAGCACGGCCCTCATGC	0.522																																							0											0													95.0	110.0	105.0					2																	128467396		2203	4300	6503	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3343C>T	2.37:g.128467396G>A	ENSP00000325377:p.Arg1115Cys		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1115C	ENST00000322313.4	37	c.3343	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432481	0.83776	.	.	ENSG00000136709	ENST00000322313	D	0.95171	-3.63	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.94379	0.7603	10	0.38643	T	0.18	-10.1911	18.9833	0.92762	0.0:0.0:1.0:0.0	.	1115	Q9C0J8	WDR33_HUMAN	C	1115	ENSP00000325377:R1115C	ENSP00000325377:R1115C	R	-	1	0	WDR33	128183866	1.000000	0.71417	0.994000	0.49952	0.829000	0.46940	7.585000	0.82584	2.493000	0.84123	0.561000	0.74099	CGT	0	NULL		0.522	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	protein_coding	OTTHUMT00000331141.2	29	160	0	0.00	0	0	G	NM_018383	0	0		128467396	-1	no_errors	ENST00000322313	ensembl	human	known	74_37	missense	14	128	44	27.27	11	48	SNP	1	A
MAP3K19	80122	genome.wustl.edu	37	2	135744355	135744355	+	Missense_Mutation	SNP	C	C	T	rs368406495		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:135744355C>T	ENST00000375845.3	-	7	2117	c.2087G>A	c.(2086-2088)cGt>cAt	p.R696H	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R713H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R583H|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	696							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										ATTGGTGATACGTCTGCCTGA	0.408																																							0											0								C	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	172.0	176.0		,2087	3.9	0.0	2		176	0,8600		0,0,4300	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign	,696/1329	135744355	1,13005	2203	4300	6503	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2087G>A	2.37:g.135744355C>T	ENSP00000365005:p.Arg696His		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R696H	ENST00000375845.3	37	c.2087	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	8.942	0.966170	0.18659	2.27E-4	0.0	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.73469	-0.58;-0.58;1.81;-0.75	5.67	3.87	0.44632	.	0.630733	0.15002	N	0.286058	T	0.52191	0.1719	N	0.08118	0	0.54753	D	0.999982	P;P;P	0.39181	0.663;0.663;0.533	B;B;B	0.32289	0.091;0.143;0.042	T	0.54070	-0.8348	10	0.66056	D	0.02	.	10.9869	0.47526	0.0:0.789:0.1406:0.0704	.	583;713;696	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	696;583;713;86	ENSP00000365005:R696H;ENSP00000351140:R583H;ENSP00000376647:R713H;ENSP00000392827:R86H	ENSP00000351140:R583H	R	-	2	0	YSK4	135460825	0.002000	0.14202	0.015000	0.15790	0.057000	0.15508	1.066000	0.30604	0.728000	0.32382	0.561000	0.74099	CGT	0	NULL		0.408	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	protein_coding	OTTHUMT00000158244.1	60	208	0	0.00	0	0	C	NM_025052	rs368406495	C->T		135744355	-1	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	34	179	41.38	23.50	24	55	SNP	0.032	T
SCN3A	6328	genome.wustl.edu	37	2	165947440	165947440	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:165947440A>G	ENST00000360093.3	-	28	5714	c.5223T>C	c.(5221-5223)tgT>tgC	p.C1741C	SCN3A_ENST00000283254.7_Silent_p.C1741C|SCN3A_ENST00000540861.1_Silent_p.C224C|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Silent_p.C1692C|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1741				CGN -> RGD (in Ref. 2; AAK00219). {ECO:0000305}.	membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGTTCCCACAGTCTCCCT	0.483																																							0											0													154.0	152.0	152.0					2																	165947440		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5223T>C	2.37:g.165947440A>G			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.C1741	ENST00000360093.3	37	c.5223		2																																																																																			0	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.483	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		93	129	0	0.00	0	0	A	NM_006922	0	0		165947440	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	silent	58	95	13.43	33.33	9	48	SNP	0.999	G
LOC100130256	100130256	genome.wustl.edu	37	2	171538994	171538994	+	RNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:171538994G>A	ENST00000428156.1	-	0	558																											aCGGCCTCACGTCTTCACTGG	0.443																																							0											0																																												0																															2.37:g.171538994G>A				RNA	SNP	0	NULL	ENST00000428156.1	37	NULL		2																																																																																			0	0		0.443	AC007277.3-001	KNOWN	basic	antisense	LOC100130256	antisense	OTTHUMT00000333674.1	59	179	0	0.00	0	0	G		0	0		171538994	-1	no_errors	ENST00000428156	ensembl	human	known	74_37	rna	33	186	33.33	29.28	17	77	SNP	0	A
EVX2	344191	genome.wustl.edu	37	2	176947101	176947101	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:176947101G>A	ENST00000308618.4	-	2	640	c.504C>T	c.(502-504)ggC>ggT	p.G168G		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	168					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TGCCTCCGCTGCCTCCATGCA	0.716																																							0											0													13.0	15.0	14.0					2																	176947101		2052	4081	6133	SO:0001819	synonymous_variant	0				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.504C>T	2.37:g.176947101G>A				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa	p.G168	ENST00000308618.4	37	c.504	CCDS33333.1	2																																																																																			0	NULL		0.716	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	protein_coding	OTTHUMT00000359252.1	14	13	0	0.00	0	0	G		0	0		176947101	-1	no_errors	ENST00000308618	ensembl	human	known	74_37	silent	6	16	33.33	11.11	3	2	SNP	1	A
PRKRA	8575	genome.wustl.edu	37	2	179300872	179300872	+	Splice_Site	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:179300872C>A	ENST00000325748.4	-	7	984	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	PRKRA_ENST00000432031.2_Splice_Site_p.D251Y|AC009948.5_ENST00000454488.1_RNA|PRKRA_ENST00000438687.3_Splice_Site_p.D149Y|AC009948.5_ENST00000436616.2_RNA|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000487082.1_Splice_Site_p.D237Y	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	262	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AAAATCATACCTATATCCAAA	0.294																																					Melanoma(200;68 3001 23825 48764)		0											0													70.0	83.0	79.0					2																	179300872		2203	4299	6502	SO:0001630	splice_region_variant	0			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.784+1G>T	2.37:g.179300872C>A			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.D262Y	ENST00000325748.4	37	c.784	CCDS2279.1	2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530245	0.85706	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.93	5.93	0.95920	Double-stranded RNA-binding (2);	0.127409	0.51477	D	0.000090	D	0.87569	0.6210	L	0.55481	1.735	0.58432	D	0.99999	D;P	0.58970	0.984;0.911	P;B	0.58873	0.847;0.264	D	0.86008	0.1499	9	.	.	.	.	17.2707	0.87101	0.0:1.0:0.0:0.0	.	262;251	O75569;O75569-2	PRKRA_HUMAN;.	Y	262;149;237;251	ENSP00000318176:D262Y;ENSP00000398980:D149Y;ENSP00000430604:D237Y;ENSP00000393883:D251Y	.	D	-	1	0	PRKRA	179009118	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.411000	0.73298	2.826000	0.97356	0.655000	0.94253	GAT	0	smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom		0.294	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	protein_coding	OTTHUMT00000255782.2	99	277	0	0.00	0	0	C	NM_003690	0	0	Missense_Mutation	179300872	-1	no_errors	ENST00000325748	ensembl	human	known	74_37	missense	41	232	37.88	23.10	25	70	SNP	1	A
CCDC150	284992	genome.wustl.edu	37	2	197565893	197565893	+	Missense_Mutation	SNP	G	G	A	rs200176761		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:197565893G>A	ENST00000389175.4	+	15	1819	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	CCDC150_ENST00000272831.7_Missense_Mutation_p.G230R	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	562										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTATGAAAACGGAAAACTCCA	0.323																																							0											0								G	ARG/GLY	1,3593		0,1,1796	58.0	50.0	53.0		1684	5.1	1.0	2		53	0,8124		0,0,4062	yes	missense	CCDC150	NM_001080539.1	125	0,1,5858	AA,AG,GG		0.0,0.0278,0.0085	probably-damaging	562/1102	197565893	1,11717	1797	4062	5859	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1684G>A	2.37:g.197565893G>A	ENSP00000373827:p.Gly562Arg		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.G562R	ENST00000389175.4	37	c.1684	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846774	0.71603	2.78E-4	0.0	ENSG00000144395	ENST00000272831;ENST00000389175	T	0.79352	-1.26	5.08	5.08	0.68730	.	0.138202	0.46758	N	0.000278	D	0.84520	0.5490	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79888	-0.1613	10	0.18710	T	0.47	-18.9211	14.1695	0.65500	0.0:0.0:1.0:0.0	.	36;230;562	B4DWS7;B4DZ03;Q8NCX0	.;.;CC150_HUMAN	R	230;562	ENSP00000373827:G562R	ENSP00000272831:G230R	G	+	1	0	CCDC150	197274138	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	4.491000	0.60326	2.802000	0.96397	0.655000	0.94253	GGA	0	NULL		0.323	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	protein_coding	OTTHUMT00000335377.2	161	303	0.62	0.00	1	0	G	NM_001080539	rs200176761	G->A		197565893	1	no_errors	ENST00000389175	ensembl	human	known	74_37	missense	87	261	21.62	30.13	24	113	SNP	0.997	A
PTH2R	5746	genome.wustl.edu	37	2	209315497	209315497	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:209315497G>A	ENST00000272847.2	+	8	1090	c.877G>A	c.(877-879)Gca>Aca	p.A293T	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	293					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ATTTGTTGCAGCATGGGCTGT	0.438																																							0											0													100.0	112.0	108.0					2																	209315497		2203	4300	6503	SO:0001583	missense	0			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.877G>A	2.37:g.209315497G>A	ENSP00000272847:p.Ala293Thr		Q8N429	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A293T	ENST00000272847.2	37	c.877	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619742	0.46736	.	.	ENSG00000144407	ENST00000272847	T	0.37058	1.22	5.86	5.86	0.93980	GPCR, family 2-like (1);	0.304707	0.22651	N	0.057338	T	0.28830	0.0715	L	0.28192	0.835	0.43279	D	0.995249	B;B	0.14805	0.011;0.005	B;B	0.19946	0.015;0.027	T	0.04065	-1.0980	10	0.27082	T	0.32	.	15.6987	0.77521	0.0:0.0:1.0:0.0	.	182;293	B4DFN8;P49190	.;PTH2R_HUMAN	T	293	ENSP00000272847:A293T	ENSP00000272847:A293T	A	+	1	0	PTH2R	209023742	0.759000	0.28416	0.988000	0.46212	0.870000	0.49936	2.797000	0.47877	2.781000	0.95711	0.650000	0.86243	GCA	0	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.438	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	protein_coding	OTTHUMT00000256519.2	91	161	0	0.00	0	0	G	NM_005048	0	0		209315497	1	no_errors	ENST00000272847	ensembl	human	known	74_37	missense	53	119	22.06	28.74	15	48	SNP	0.989	A
ITM2C	81618	genome.wustl.edu	37	2	231741651	231741651	+	Missense_Mutation	SNP	G	G	A	rs199999372	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:231741651G>A	ENST00000326427.6	+	4	656	c.530G>A	c.(529-531)cGc>cAc	p.R177H	ITM2C_ENST00000409704.2_Missense_Mutation_p.R115H|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000335005.6_Missense_Mutation_p.R130H|ITM2C_ENST00000326407.6_Intron	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	177	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGCCCCCTCGCAACTTCTGG	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		19950	0.002		0.0	False		,,,				2504	0.0						0											0								G	HIS/ARG,,HIS/ARG	0,4406		0,0,2203	132.0	126.0	128.0		389,,530	5.8	0.8	2		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	ITM2C	NM_001012514.1,NM_001012516.1,NM_030926.4	29,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	130/221,,177/268	231741651	1,13005	2203	4300	6503	SO:0001583	missense	0			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.530G>A	2.37:g.231741651G>A	ENSP00000322730:p.Arg177His		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.R177H	ENST00000326427.6	37	c.530	CCDS2479.1	2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	32	5.137396	0.94517	0.0	1.16E-4	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.8	5.8	0.92144	BRICHOS (2);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.966;0.999	D	0.87077	0.2163	10	0.54805	T	0.06	-12.482	15.5631	0.76266	0.0:0.0:1.0:0.0	.	130;177	Q9NQX7-2;Q9NQX7	.;ITM2C_HUMAN	H	177;115;177;130;115;115;115	ENSP00000390655:R177H;ENSP00000440295:R115H;ENSP00000322730:R177H;ENSP00000335121:R130H;ENSP00000444899:R115H;ENSP00000387242:R115H;ENSP00000403257:R115H	ENSP00000322730:R177H	R	+	2	0	ITM2C	231449895	0.998000	0.40836	0.808000	0.32385	0.994000	0.84299	5.392000	0.66272	2.735000	0.93741	0.655000	0.94253	CGC	0	pfam_BRICHOS_dom,pfscan_BRICHOS_dom		0.587	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2C	protein_coding	OTTHUMT00000256954.2	32	131	0	0.76	0	1	G	NM_030926	rs199999372	G->A		231741651	1	no_errors	ENST00000326427	ensembl	human	known	74_37	missense	19	140	24	20.90	6	37	SNP	0.915	A
ALPPL2	251	genome.wustl.edu	37	2	233274420	233274420	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:233274420C>T	ENST00000295453.3	+	11	1489	c.1437C>T	c.(1435-1437)caC>caT	p.H479H		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	479					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TCATAGCGCACGTCATGGCCT	0.746																																							0											0													15.0	19.0	17.0					2																	233274420		2185	4280	6465	SO:0001819	synonymous_variant	0			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1437C>T	2.37:g.233274420C>T			A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.H479	ENST00000295453.3	37	c.1437	CCDS2491.1	2																																																																																			0	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.746	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPPL2	protein_coding	OTTHUMT00000257034.2	32	29	0	0.00	0	0	C	NM_031313	0	0		233274420	1	no_errors	ENST00000295453	ensembl	human	known	74_37	silent	16	20	23.81	33.33	5	10	SNP	0.997	T
UGT1A6	54578	genome.wustl.edu	37	2	234652110	234652110	+	Intron	SNP	C	C	T	rs542057655	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:234652110C>T	ENST00000305139.6	+	2	1000				UGT1A4_ENST00000373409.3_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AAAAACACCCCCAAAAGCTGG	0.512													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17423	0.0		0.0	False		,,,				2504	0.0						0											0																																										SO:0001627	intron_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23570C>T	2.37:g.234652110C>T			A6NKK6|B8K289|Q96TE7	RNA	SNP	0	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			0	0		0.512	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	protein_coding	OTTHUMT00000130988.1	44	120	0	0.00	0	0	C	NM_205862	rs542057655	C->T		234652110	-1	no_errors	ENST00000449667	ensembl	human	known	74_37	rna	24	70	33.33	25.53	12	24	SNP	0.002	T
AGAP1	116987	genome.wustl.edu	37	2	236653408	236653408	+	Missense_Mutation	SNP	G	G	A	rs200676786	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:236653408G>A	ENST00000304032.8	+	5	1043	c.463G>A	c.(463-465)Gtt>Att	p.V155I	AGAP1_ENST00000428334.2_5'UTR|AGAP1_ENST00000409538.1_Missense_Mutation_p.V420I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V155I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V155I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	155	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTCCAGACCGTTTACCACTA	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18806	0.0		0.0	False		,,,				2504	0.0						0											0								G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	143.0	128.0	133.0		463,463	5.4	0.0	2		133	0,8600		0,0,4300	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	155/858,155/805	236653408	2,13004	2203	4300	6503	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.463G>A	2.37:g.236653408G>A	ENSP00000307634:p.Val155Ile		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.V155I	ENST00000304032.8	37	c.463	CCDS33408.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.6	4.305165	0.81247	4.54E-4	0.0	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.36	5.36	0.76844	Mitochondrial Rho-like (1);	0.073044	0.53938	D	0.000050	T	0.65365	0.2684	L	0.27944	0.81	0.80722	D	1	P;P	0.39551	0.678;0.636	B;B	0.37943	0.261;0.151	T	0.65183	-0.6230	10	0.33141	T	0.24	.	19.0839	0.93194	0.0:0.0:1.0:0.0	.	155;155	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	155;155;155;102;420	ENSP00000387174:V155I;ENSP00000307634:V155I;ENSP00000338378:V155I;ENSP00000385492:V102I;ENSP00000386897:V420I	ENSP00000307634:V155I	V	+	1	0	AGAP1	236318147	1.000000	0.71417	0.027000	0.17364	0.902000	0.53008	9.751000	0.98889	2.513000	0.84729	0.650000	0.86243	GTT	0	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.502	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	protein_coding	OTTHUMT00000257076.2	71	180	0	0.00	0	0	G	NM_014914	rs200676786	G->A		236653408	1	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	45	141	32.84	24.60	22	46	SNP	0.994	A
LOC151174	151174	genome.wustl.edu	37	2	239133835	239133835	+	Missense_Mutation	SNP	G	G	A	rs575876157	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:239133835G>A	ENST00000409070.1	-	3	651	c.440C>T	c.(439-441)gCg>gTg	p.A147V	AC016757.3_ENST00000470346.1_5'UTR|AC016757.3_ENST00000334973.4_Missense_Mutation_p.A124V|AC016757.3_ENST00000409942.1_Missense_Mutation_p.A127V|AC016757.3_ENST00000409376.1_Missense_Mutation_p.A127V																							tggaccttgcgcagggcaatg	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19518	0.001		0.0	False		,,,				2504	0.0						0											0																																										SO:0001583	missense	0																														ENST00000409070.1:c.440C>T	2.37:g.239133835G>A	ENSP00000386947:p.Ala147Val			Missense_Mutation	SNP	NULL	p.A124V	ENST00000409070.1	37	c.371		2	.	.	.	.	.	.	.	.	.	.	G	3.274	-0.148489	0.06627	.	.	ENSG00000186235	ENST00000409376;ENST00000334973;ENST00000409070;ENST00000409942	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	1.97	1.08	0.20341	.	.	.	.	.	T	0.61837	0.2379	.	.	.	.	.	.	B	0.22080	0.064	B	0.23018	0.043	T	0.60910	-0.7169	7	0.87932	D	0	.	4.6806	0.12732	0.1897:0.0:0.8103:0.0	.	147	E7EUL1	.	V	127;124;147;127	ENSP00000386409:A127V;ENSP00000334143:A124V;ENSP00000386947:A147V;ENSP00000386755:A127V	ENSP00000334143:A124V	A	-	2	0	AC016757.3	238798574	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-1.355000	0.02612	0.386000	0.24997	-0.126000	0.14955	GCG	0	NULL		0.517	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	LOC151174	protein_coding	OTTHUMT00000328480.1	70	168	0	0.00	0	0	G		rs575876157	G->A		239133835	-1	no_errors	ENST00000334973	ensembl	human	known	74_37	missense	35	130	30	25.71	15	45	SNP	0.017	A
ING5	84289	genome.wustl.edu	37	2	242648685	242648685	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:242648685C>T	ENST00000313552.6	+	3	190	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ING5_ENST00000406941.1_Missense_Mutation_p.T55M|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	55					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ACGGTGAAGACGCTGTCTCCA	0.537																																							0											0													141.0	140.0	140.0					2																	242648685		2203	4296	6499	SO:0001583	missense	0			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.164C>T	2.37:g.242648685C>T	ENSP00000322142:p.Thr55Met		A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T55M	ENST00000313552.6	37	c.164	CCDS33425.1	2	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255387	0.59321	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	.	.	.	5.54	3.55	0.40652	Inhibitor of growth protein, N-terminal (1);	0.281864	0.38111	N	0.001820	T	0.46541	0.1398	L	0.39898	1.24	0.25285	N	0.989403	P;D	0.65815	0.86;0.995	P;P	0.59595	0.713;0.86	T	0.23976	-1.0173	9	0.66056	D	0.02	-12.7656	8.6813	0.34209	0.3629:0.4561:0.181:0.0	.	55;55	Q8WYH8;B7Z6R2	ING5_HUMAN;.	M	55	.	ENSP00000322142:T55M	T	+	2	0	ING5	242297358	0.921000	0.31238	0.644000	0.29465	0.627000	0.37826	1.957000	0.40392	2.616000	0.88540	0.591000	0.81541	ACG	0	NULL		0.537	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING5	protein_coding	OTTHUMT00000322901.3	25	101	0	0.00	0	0	C	NM_032329	0	0		242648685	1	no_errors	ENST00000313552	ensembl	human	known	74_37	missense	12	61	29.41	31.46	5	28	SNP	0.725	T
CCDC174	51244	genome.wustl.edu	37	3	14711556	14711556	+	Silent	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:14711556T>C	ENST00000383794.3	+	10	1141	c.1068T>C	c.(1066-1068)ccT>ccC	p.P356P	CCDC174_ENST00000303688.7_Silent_p.P280P|CCDC174_ENST00000476763.1_3'UTR	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	356						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACACCAAGCCTGGAGTGCCAC	0.552																																							0											0													67.0	57.0	60.0					3																	14711556		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.1068T>C	3.37:g.14711556T>C			Q96CS5	Silent	SNP	NULL	p.P356	ENST00000383794.3	37	c.1068	CCDS2620.2	3																																																																																			0	NULL		0.552	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC174	protein_coding	OTTHUMT00000252077.2	30	165	0	0.00	0	0	T	NM_016474	0	0		14711556	1	no_errors	ENST00000383794	ensembl	human	known	74_37	silent	8	68	55.56	48.51	10	65	SNP	0.023	C
EFHB	151651	genome.wustl.edu	37	3	19924092	19924092	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:19924092G>A	ENST00000295824.9	-	12	2439	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	EFHB_ENST00000344838.4_Missense_Mutation_p.R630W	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	760							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACTCCTTTCCGGGCAAAAATG	0.383																																							0											0													58.0	52.0	54.0					3																	19924092		2203	4300	6503	SO:0001583	missense	0			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2278C>T	3.37:g.19924092G>A	ENSP00000295824:p.Arg760Trp		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R760W	ENST00000295824.9	37	c.2278	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467261	0.43839	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.23754	3.15;1.89	5.55	3.6	0.41247	.	0.225560	0.39407	N	0.001372	T	0.20333	0.0489	N	0.24115	0.695	0.23082	N	0.998326	D;D	0.55385	0.969;0.971	P;B	0.46975	0.533;0.216	T	0.06552	-1.0820	9	.	.	.	-9.0611	11.3945	0.49834	0.0:0.1198:0.6334:0.2468	.	630;760	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	W	760;630	ENSP00000295824:R760W;ENSP00000342263:R630W	.	R	-	1	2	EFHB	19899096	0.986000	0.35501	0.912000	0.35992	0.066000	0.16364	1.450000	0.35134	1.417000	0.47077	0.655000	0.94253	CGG	0	NULL		0.383	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	protein_coding	OTTHUMT00000318673.2	97	248	0	0.00	0	0	G	NM_144715	0	0		19924092	-1	no_errors	ENST00000295824	ensembl	human	known	74_37	missense	20	124	53.49	43.38	23	95	SNP	0.964	A
MLH1	4292	genome.wustl.edu	37	3	37035147	37035147	+	Nonsense_Mutation	SNP	G	G	T	rs63751012		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:37035147G>T	ENST00000231790.2	+	1	325	c.109G>T	c.(109-111)Gag>Tag	p.E37*	EPM2AIP1_ENST00000322716.5_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	37			E -> ELNH (found in an endometrial cancer sample; somatic mutation).		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGAGATGATTGAGAACTGGTA	0.607		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														0	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	0			GRCh37	CM055990	MLH1	M							54.0	56.0	55.0					3																	37035147		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.109G>T	3.37:g.37035147G>T	ENSP00000231790:p.Glu37*		B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	p.E37*	ENST00000231790.2	37	c.109	CCDS2663.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.426190|6.426190	0.97559|0.97559	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937|ENST00000456676	.|.	.|.	.|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.117201|.	0.64402|.	D|.	0.000019|.	.|T	.|0.75488	.|0.3856	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72462	.|-0.4286	.|4	0.87932|.	D|.	0|.	-23.2581|-23.2581	19.2211|19.2211	0.93797|0.93797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs63751012|rs63751012	.|.	.|.	.|.	X|F	37;3;3|28	.|.	ENSP00000231790:E37X|.	E|L	+|+	1|3	0|2	MLH1|MLH1	37010151|37010151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.788000|8.788000	0.91834|0.91834	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	GAG|TTG	0	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N		0.607	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	protein_coding	OTTHUMT00000253337.2	111	101	0	0.00	0	0	G	NM_000249	rs63751012	G->A,T		37035147	1	no_errors	ENST00000231790	ensembl	human	known	74_37	nonsense	32	59	34.69	40.40	17	40	SNP	1	T
SLC22A13	9390	genome.wustl.edu	37	3	38307356	38307356	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:38307356C>T	ENST00000311856.4	+	1	54	c.5C>T	c.(4-6)gCt>gTt	p.A2V	SLC22A13_ENST00000450935.2_5'Flank	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	2					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GCATACATGGCTCAGTTTGTC	0.527																																							0											0													154.0	128.0	137.0					3																	38307356		2203	4300	6503	SO:0001583	missense	0			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.5C>T	3.37:g.38307356C>T	ENSP00000310241:p.Ala2Val		B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A2V	ENST00000311856.4	37	c.5	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	.	8.885	0.952549	0.18431	.	.	ENSG00000172940	ENST00000311856	T	0.64618	-0.11	4.71	2.9	0.33743	Major facilitator superfamily domain, general substrate transporter (1);	0.496053	0.21804	N	0.068865	T	0.44993	0.1320	L	0.41356	1.27	0.50632	D	0.999889	B;B	0.33103	0.176;0.397	B;B	0.34093	0.175;0.085	T	0.34054	-0.9844	10	0.02654	T	1	.	8.6063	0.33775	0.0:0.74:0.0:0.26	.	2;2	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	V	2	ENSP00000310241:A2V	ENSP00000310241:A2V	A	+	2	0	SLC22A13	38282360	0.110000	0.22057	0.186000	0.23195	0.271000	0.26615	0.781000	0.26774	0.528000	0.28580	0.563000	0.77884	GCT	0	superfamily_MFS_dom_general_subst_transpt		0.527	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	protein_coding	OTTHUMT00000253746.2	50	213	1.96	0.00	1	0	C	NM_004256	0	0		38307356	1	no_errors	ENST00000311856	ensembl	human	known	74_37	missense	17	91	32	40.91	8	63	SNP	0.695	T
TGM4	7047	genome.wustl.edu	37	3	44935086	44935086	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:44935086C>T	ENST00000296125.4	+	5	516	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	150					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGTTTTCATGCCTGATGAGGA	0.527																																							0											0													121.0	108.0	112.0					3																	44935086		2203	4300	6503	SO:0001583	missense	0			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.448C>T	3.37:g.44935086C>T	ENSP00000296125:p.Pro150Ser		Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.P150S	ENST00000296125.4	37	c.448	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851571	0.17034	.	.	ENSG00000163810	ENST00000296125	D	0.91996	-2.95	2.32	-4.1	0.03940	.	0.598230	0.13120	U	0.412319	T	0.79919	0.4529	N	0.21448	0.665	0.09310	N	0.99999	P	0.37824	0.609	B	0.30716	0.119	T	0.70788	-0.4777	10	0.39692	T	0.17	.	6.5202	0.22271	0.0:0.3705:0.4242:0.2053	.	150	P49221	TGM4_HUMAN	S	150	ENSP00000296125:P150S	ENSP00000296125:P150S	P	+	1	0	TGM4	44910090	0.025000	0.19082	0.013000	0.15412	0.523000	0.34469	-0.447000	0.06828	-0.644000	0.05465	0.467000	0.42956	CCT	0	NULL		0.527	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	protein_coding	OTTHUMT00000256755.2	29	119	0	0.00	0	0	C	NM_003241	0	0		44935086	1	no_errors	ENST00000296125	ensembl	human	known	74_37	missense	6	66	50	38.32	6	41	SNP	0.073	T
SETD2	29072	genome.wustl.edu	37	3	47142960	47142960	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:47142960A>G	ENST00000409792.3	-	8	5045	c.5003T>C	c.(5002-5004)tTc>tCc	p.F1668S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1668					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATATCTCTGGAACTGATAGTC	0.378			"""N, F, S, Mis"""		clear cell renal carcinoma																																		0		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													164.0	168.0	167.0					3																	47142960		2203	4300	6503	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5003T>C	3.37:g.47142960A>G	ENSP00000386759:p.Phe1668Ser		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.F1668S	ENST00000409792.3	37	c.5003	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	A	27.5	4.834659	0.91036	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.80393	-1.37	5.94	5.94	0.96194	SET domain (2);	0.000000	0.56097	D	0.000031	D	0.91257	0.7244	M	0.88181	2.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.92746	0.6212	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1668;1668	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	1668	ENSP00000386759:F1668S	ENSP00000386759:F1668S	F	-	2	0	SETD2	47117964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.238000	0.95380	2.275000	0.75901	0.528000	0.53228	TTC	0	smart_SET_dom,pfscan_SET_dom		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	protein_coding	OTTHUMT00000257479.2	359	294	0	0.00	0	0	A	NM_014159	0	0		47142960	-1	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	126	167	39.42	39.93	82	111	SNP	1	G
PLXNB1	5364	genome.wustl.edu	37	3	48465012	48465012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:48465012G>A	ENST00000358536.4	-	3	1278	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.R337*|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.R337*|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.R337*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	337	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGCATCTCGCGTGCGATTA	0.637																																							0											0													58.0	58.0	58.0					3																	48465012		2203	4300	6503	SO:0001587	stop_gained	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1009C>T	3.37:g.48465012G>A	ENSP00000351338:p.Arg337*		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R337*	ENST00000358536.4	37	c.1009	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.123116	0.94429	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	.	.	.	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.2724	0.43491	0.0:0.0:0.6768:0.3232	.	.	.	.	X	337	.	ENSP00000296440:R337X	R	-	1	2	PLXNB1	48440016	0.970000	0.33590	0.257000	0.24404	0.951000	0.60555	1.619000	0.36965	2.002000	0.58637	0.478000	0.44815	CGA	0	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.637	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	49	86	0	0.00	0	0	G	NM_002673	0	0		48465012	-1	no_errors	ENST00000296440	ensembl	human	known	74_37	nonsense	14	30	46.15	28.57	12	12	SNP	0.956	A
CACNA2D2	9254	genome.wustl.edu	37	3	50425016	50425016	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:50425016T>C	ENST00000479441.1	-	5	492	c.493A>G	c.(493-495)Aag>Gag	p.K165E	CACNA2D2_ENST00000360963.3_Missense_Mutation_p.K96E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.K165E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.K165E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.K165E|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.K165E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.K165E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.K165E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	165					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCGTCAGCCTTGGCGTCATAG	0.607																																							0											0													171.0	124.0	140.0					3																	50425016		2203	4300	6503	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.493A>G	3.37:g.50425016T>C	ENSP00000418081:p.Lys165Glu		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K165E	ENST00000479441.1	37	c.493	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711897	0.89112	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.08458	3.09;3.1;3.1;3.14;3.09;3.1;3.1;3.09	5.84	5.84	0.93424	VWA N-terminal (1);	0.110125	0.64402	D	0.000014	T	0.30854	0.0778	M	0.84219	2.685	0.42066	D	0.991186	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05451	-1.0884	10	0.62326	D	0.03	-28.4808	12.0372	0.53431	0.0:0.0686:0.0:0.9314	.	165;165	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	165;165;165;96;165;165;165;165	ENSP00000407393:K165E;ENSP00000404631:K165E;ENSP00000266039:K165E;ENSP00000354228:K96E;ENSP00000390526:K165E;ENSP00000378519:K165E;ENSP00000390329:K165E;ENSP00000418081:K165E	ENSP00000266039:K165E	K	-	1	0	CACNA2D2	50400020	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.025000	0.49681	2.243000	0.73865	0.533000	0.62120	AAG	0	pfam_VWA_N		0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	protein_coding	OTTHUMT00000346457.1	23	128	0	0.00	0	0	T	NM_006030	0	0		50425016	-1	no_errors	ENST00000435965	ensembl	human	known	74_37	missense	6	50	45.45	46.81	5	44	SNP	1	C
MTHFD2P1	100287639	genome.wustl.edu	37	3	95373487	95373487	+	RNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:95373487G>A	ENST00000494840.1	-	0	2374					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		TTTGGGAAACGCAGTCCTAAT	0.373																																							0											0																																												0					3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95373487G>A				RNA	SNP	0	NULL	ENST00000494840.1	37	NULL		3																																																																																			0	0		0.373	MTHFD2P1-002	KNOWN	basic	processed_transcript	MTHFD2P1	pseudogene	OTTHUMT00000352943.1	21	257	0	0.00	0	0	G		0	0		95373487	-1	no_errors	ENST00000494840	ensembl	human	known	74_37	rna	18	194	14.29	27.14	3	73	SNP	0.01	A
TRAT1	50852	genome.wustl.edu	37	3	108566012	108566012	+	Intron	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:108566012A>G	ENST00000295756.6	+	4	444				TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1						cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TAAATAAGTAAATCCCAGTTG	0.289																																							0											0													28.0	31.0	30.0					3																	108566012		2172	4266	6438	SO:0001627	intron_variant	0			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.214+36A>G	3.37:g.108566012A>G			Q9NZX5	RNA	SNP	0	NULL	ENST00000295756.6	37	NULL	CCDS33813.1	3																																																																																			0	0		0.289	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAT1	protein_coding	OTTHUMT00000353794.1	136	314	0	0.00	0	0	A	NM_016388	0	0		108566012	1	no_errors	ENST00000493604	ensembl	human	known	74_37	rna	105	391	25.53	21.64	36	108	SNP	0.002	G
BOC	91653	genome.wustl.edu	37	3	112992057	112992057	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:112992057G>A	ENST00000495514.1	+	8	1807	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	BOC_ENST00000273395.4_Missense_Mutation_p.R368H|BOC_ENST00000355385.3_Missense_Mutation_p.R368H			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	368	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCCAGCCAGCGCCTCCGGCTC	0.682																																							0											0													35.0	35.0	35.0					3																	112992057		2203	4300	6503	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1103G>A	3.37:g.112992057G>A	ENSP00000418663:p.Arg368His		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R368H	ENST00000495514.1	37	c.1103	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949754	0.73787	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	D;D;D	0.84800	-1.9;-1.9;-1.9	5.66	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117674	0.56097	N	0.000022	D	0.86924	0.6050	M	0.70903	2.155	0.50039	D	0.99984	P;D	0.53619	0.952;0.961	P;P	0.50162	0.5;0.633	D	0.87554	0.2467	10	0.72032	D	0.01	.	10.5172	0.44896	0.1464:0.0:0.8536:0.0	.	368;368	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	H	368	ENSP00000418663:R368H;ENSP00000273395:R368H;ENSP00000347546:R368H	ENSP00000273395:R368H	R	+	2	0	BOC	114474747	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.138000	0.64795	1.395000	0.46643	0.655000	0.94253	CGC	0	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.682	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	protein_coding	OTTHUMT00000354485.3	20	53	0	0.00	0	0	G	NM_033254	0	0		112992057	1	no_errors	ENST00000273395	ensembl	human	known	74_37	missense	12	59	33.33	24.36	6	19	SNP	1	A
SPICE1	152185	genome.wustl.edu	37	3	113187079	113187079	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:113187079G>A	ENST00000295872.4	-	10	1321	c.1062C>T	c.(1060-1062)cgC>cgT	p.R354R		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	354					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCTTGACCTCGCGACCTGTCC	0.493																																							0											0													188.0	176.0	180.0					3																	113187079		2203	4300	6503	SO:0001819	synonymous_variant	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1062C>T	3.37:g.113187079G>A			D3DN72|Q8WUX6	Silent	SNP	NULL	p.R354	ENST00000295872.4	37	c.1062	CCDS2973.1	3																																																																																			0	NULL		0.493	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	protein_coding	OTTHUMT00000354177.2	26	224	0	0.00	0	0	G	NM_144718	0	0		113187079	-1	no_errors	ENST00000295872	ensembl	human	known	74_37	silent	20	229	19.23	18.15	5	51	SNP	0.028	A
ARHGAP31	57514	genome.wustl.edu	37	3	119134183	119134183	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:119134183A>G	ENST00000264245.4	+	12	3939	c.3407A>G	c.(3406-3408)gAg>gGg	p.E1136G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1136					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAGGTCTCTGAGCCAGGAGAC	0.527																																					Pancreas(7;176 297 5394 51128 51241)		0											0													89.0	85.0	86.0					3																	119134183		1932	4148	6080	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3407A>G	3.37:g.119134183A>G	ENSP00000264245:p.Glu1136Gly		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1136G	ENST00000264245.4	37	c.3407	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436540	0.43224	.	.	ENSG00000031081	ENST00000264245	T	0.07327	3.2	5.53	5.53	0.82687	.	0.321128	0.26723	N	0.022833	T	0.10981	0.0268	M	0.63428	1.95	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.12889	-1.0530	10	0.72032	D	0.01	.	9.1622	0.37030	0.9128:0.0:0.0872:0.0	.	1136	Q2M1Z3	RHG31_HUMAN	G	1136	ENSP00000264245:E1136G	ENSP00000264245:E1136G	E	+	2	0	ARHGAP31	120616873	1.000000	0.71417	0.975000	0.42487	0.531000	0.34715	2.570000	0.45981	2.315000	0.78130	0.533000	0.62120	GAG	0	NULL		0.527	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	protein_coding	OTTHUMT00000354942.2	33	149	0	0.00	0	0	A		0	0		119134183	1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	20	186	28.57	19.05	8	44	SNP	0.185	G
POLQ	10721	genome.wustl.edu	37	3	121208594	121208594	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:121208594C>T	ENST00000264233.5	-	16	3312	c.3184G>A	c.(3184-3186)Gcg>Acg	p.A1062T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1062					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATTCTACACGCTCCAGAGTCT	0.413								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)		0											0													61.0	69.0	66.0					3																	121208594		2202	4300	6502	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3184G>A	3.37:g.121208594C>T	ENSP00000264233:p.Ala1062Thr		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.A1062T	ENST00000264233.5	37	c.3184	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156816	0.01686	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.44881	0.91	4.87	-2.11	0.07187	.	1.647590	0.02759	N	0.118383	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.13407	0.001;0.009	T	0.05666	-1.0871	10	0.12766	T	0.61	.	0.3505	0.00348	0.2829:0.1659:0.1465:0.4047	.	1062;234	O75417;O75417-2	DPOLQ_HUMAN;.	T	685;1062;1198	ENSP00000264233:A1062T	ENSP00000264233:A1062T	A	-	1	0	POLQ	122691284	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.361000	0.07612	-0.539000	0.06273	-0.471000	0.05019	GCG	0	NULL		0.413	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	38	236	0	0.00	0	0	C	NM_199420	0	0		121208594	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	47	347	21.67	21.32	13	94	SNP	0	T
GOLGB1	2804	genome.wustl.edu	37	3	121448891	121448891	+	Intron	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:121448891T>C	ENST00000340645.5	-	3	222				GOLGB1_ENST00000393667.3_Intron|GOLGB1_ENST00000472829.1_5'UTR	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1						Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGTTGCCAGTGCACCAGGAA	0.358																																							0											0													40.0	38.0	39.0					3																	121448891		2203	4300	6503	SO:0001627	intron_variant	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.97-27A>G	3.37:g.121448891T>C			B2ZZ91|D3DN92|E7EP74|Q14398	RNA	SNP	0	NULL	ENST00000340645.5	37	NULL	CCDS3004.1	3																																																																																			0	0		0.358	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	protein_coding	OTTHUMT00000355159.1	57	260	0	0.00	0	0	T	NM_004487	0	0		121448891	-1	no_errors	ENST00000472829	ensembl	human	known	74_37	rna	50	351	12.28	24.30	7	113	SNP	0	C
IQCB1	9657	genome.wustl.edu	37	3	121500719	121500719	+	Silent	SNP	C	C	T	rs201319850		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:121500719C>T	ENST00000310864.6	-	13	1495	c.1281G>A	c.(1279-1281)gcG>gcA	p.A427A	IQCB1_ENST00000349820.6_Silent_p.A294A	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	427	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGAATTTAAGCGCCTGGAAGA	0.393																																							0											0								C	,	1,4405	2.1+/-5.4	0,1,2202	79.0	80.0	80.0		1281,882	-4.6	0.5	3		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IQCB1	NM_001023570.2,NM_001023571.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	427/599,294/466	121500719	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1281G>A	3.37:g.121500719C>T			Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.A427	ENST00000310864.6	37	c.1281	CCDS33837.1	3																																																																																			0	superfamily_P-loop_NTPase		0.393	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	protein_coding	OTTHUMT00000250573.1	96	273	0	0.36	0	1	C	NM_014642	rs201319850	C->T		121500719	-1	no_errors	ENST00000310864	ensembl	human	known	74_37	silent	71	317	21.11	17.62	19	68	SNP	0.882	T
SEMA5B	54437	genome.wustl.edu	37	3	122634326	122634326	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:122634326T>A	ENST00000357599.3	-	14	2335	c.1949A>T	c.(1948-1950)gAc>gTc	p.D650V	SEMA5B_ENST00000195173.4_Missense_Mutation_p.D650V|SEMA5B_ENST00000451055.2_Missense_Mutation_p.D704V	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	650					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCCAGGCAGTCAAGGCCCCC	0.597																																							0											0													65.0	63.0	64.0					3																	122634326		2203	4300	6503	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1949A>T	3.37:g.122634326T>A	ENSP00000350215:p.Asp650Val		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.D704V	ENST00000357599.3	37	c.2111	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390507	0.25118	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.75	1.01	0.19927	.	0.628717	0.17699	N	0.164993	T	0.12220	0.0297	L	0.39514	1.22	0.32784	N	0.502131	B;B;B	0.18968	0.032;0.019;0.019	B;B;B	0.25614	0.062;0.028;0.028	T	0.12426	-1.0548	10	0.31617	T	0.26	.	5.0579	0.14542	0.0:0.2842:0.1651:0.5507	.	592;650;650	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	V	650;650;592;704;650	ENSP00000350215:D650V;ENSP00000195173:D650V;ENSP00000389588:D704V;ENSP00000377208:D650V	ENSP00000195173:D650V	D	-	2	0	SEMA5B	124117016	0.007000	0.16637	0.573000	0.28510	0.989000	0.77384	0.048000	0.14078	0.336000	0.23639	0.379000	0.24179	GAC	0	superfamily_Thrombospondin_1_rpt		0.597	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	protein_coding	OTTHUMT00000277165.1	27	108	0	0.00	0	0	T	NM_001031702	0	0		122634326	-1	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	23	114	17.86	11.63	5	15	SNP	0.163	A
ADCY5	111	genome.wustl.edu	37	3	123008708	123008708	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:123008708C>T	ENST00000462833.1	-	19	4633	c.3421G>A	c.(3421-3423)Gac>Aac	p.D1141N	ADCY5_ENST00000309879.5_Missense_Mutation_p.D791N|ADCY5_ENST00000491190.1_Missense_Mutation_p.D799N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1141	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCCACCTTGTCGTAGGTAGAG	0.542																																							0											0													146.0	124.0	131.0					3																	123008708		2203	4300	6503	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3421G>A	3.37:g.123008708C>T	ENSP00000419361:p.Asp1141Asn		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D1141N	ENST00000462833.1	37	c.3421	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.425781	0.96131	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.29655	1.56;1.56;1.56	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.97110	0.581;1.0	T	0.34925	-0.9809	10	0.42905	T	0.14	.	18.7781	0.91920	0.0:1.0:0.0:0.0	.	1141;799	O95622;B3KWA8	ADCY5_HUMAN;.	N	1141;799;791	ENSP00000419361:D1141N;ENSP00000418537:D799N;ENSP00000308685:D791N	ENSP00000308685:D791N	D	-	1	0	ADCY5	124491398	1.000000	0.71417	0.974000	0.42286	0.953000	0.61014	7.315000	0.78998	2.662000	0.90505	0.555000	0.69702	GAC	0	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.542	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	protein_coding	OTTHUMT00000355889.4	37	139	0	0.00	0	0	C	XM_171048	0	0		123008708	-1	no_errors	ENST00000462833	ensembl	human	known	74_37	missense	26	122	25.71	23.75	9	38	SNP	1	T
KLF15	28999	genome.wustl.edu	37	3	126071428	126071428	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:126071428G>A	ENST00000296233.3	-	2	568	c.338C>T	c.(337-339)gCc>gTc	p.A113V	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	113					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTTCACAGGGGCCGCTGCCCT	0.662																																							0											0													15.0	17.0	16.0					3																	126071428		2189	4287	6476	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.338C>T	3.37:g.126071428G>A	ENSP00000296233:p.Ala113Val			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A113V	ENST00000296233.3	37	c.338	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	G	6.295	0.422516	0.11928	.	.	ENSG00000163884	ENST00000296233	T	0.07444	3.19	4.3	2.04	0.26737	.	0.781125	0.12311	N	0.480204	T	0.05777	0.0151	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40757	-0.9546	10	0.31617	T	0.26	.	7.4025	0.26973	0.2822:0.0:0.7178:0.0	.	113	Q9UIH9	KLF15_HUMAN	V	113	ENSP00000296233:A113V	ENSP00000296233:A113V	A	-	2	0	KLF15	127554118	0.156000	0.22821	0.001000	0.08648	0.574000	0.36063	2.768000	0.47645	0.308000	0.22923	0.591000	0.81541	GCC	0	NULL		0.662	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	protein_coding	OTTHUMT00000370096.1	18	130	0	0.00	0	0	G	NM_014079	0	0		126071428	-1	no_errors	ENST00000296233	ensembl	human	known	74_37	missense	13	127	27.78	22.56	5	37	SNP	0.001	A
PLXNA1	5361	genome.wustl.edu	37	3	126708480	126708480	+	Silent	SNP	C	C	T	rs373912187		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:126708480C>T	ENST00000393409.2	+	1	1044	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	PLXNA1_ENST00000251772.4_Silent_p.R325R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	348	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGAAGAACCGCGTGAAGCCAC	0.637																																							0											0								T		0,4406		0,0,2203	75.0	71.0	72.0		1044	-7.4	0.7	3		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXNA1	NM_032242.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		348/1897	126708480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1044C>T	3.37:g.126708480C>T				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R348	ENST00000393409.2	37	c.1044	CCDS33847.2	3																																																																																			0	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	protein_coding	OTTHUMT00000356451.1	52	115	0	0.00	0	0	C	NM_032242	rs373912187	C->T		126708480	1	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	43	106	18.87	29.33	10	44	SNP	0.017	T
RPN1	6184	genome.wustl.edu	37	3	128363786	128363786	+	Missense_Mutation	SNP	C	C	T	rs199783080		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:128363786C>T	ENST00000296255.3	-	2	350	c.302G>A	c.(301-303)cGt>cAt	p.R101H	RPN1_ENST00000497289.1_De_novo_Start_OutOfFrame	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	101					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TTTGGTTTCACGTACTTCCAA	0.338			T	EVI1	AML								C|||	1	0.000199681	0.0	0.0014	5008	,	,		19640	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													269.0	228.0	242.0					3																	128363786		2203	4300	6503	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.302G>A	3.37:g.128363786C>T	ENSP00000296255:p.Arg101His		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.R101H	ENST00000296255.3	37	c.302	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150914	0.78001	.	.	ENSG00000163902	ENST00000296255;ENST00000545956	.	.	.	5.01	4.13	0.48395	.	0.197730	0.44097	D	0.000499	T	0.51193	0.1660	L	0.55990	1.75	0.80722	D	1	D	0.55605	0.972	P	0.49332	0.607	T	0.49744	-0.8907	9	0.40728	T	0.16	-13.4594	7.0718	0.25183	0.0:0.7239:0.0:0.2761	.	101	P04843	RPN1_HUMAN	H	101;75	.	ENSP00000296255:R101H	R	-	2	0	RPN1	129846476	0.991000	0.36638	0.929000	0.37066	0.979000	0.70002	1.050000	0.30404	1.238000	0.43771	0.591000	0.81541	CGT	0	pfam_Ribophorin_I		0.338	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	protein_coding	OTTHUMT00000356934.2	139	340	0	0.29	0	1	C	NM_002950	rs199783080	C->T		128363786	-1	no_errors	ENST00000296255	ensembl	human	known	74_37	missense	111	384	20.14	19.33	28	92	SNP	0.987	T
HMCES	56941	genome.wustl.edu	37	3	129007805	129007805	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:129007805C>T	ENST00000383463.4	+	3	381	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	HMCES_ENST00000389735.3_Missense_Mutation_p.R98C|HMCES_ENST00000502878.2_Missense_Mutation_p.R98C|HMCES_ENST00000417226.2_Missense_Mutation_p.R98C	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	98							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TACCAACTGTCGTAGTGATAC	0.473																																							0											0													127.0	109.0	116.0					3																	129007805		2203	4300	6503	SO:0001583	missense	0			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.292C>T	3.37:g.129007805C>T	ENSP00000372955:p.Arg98Cys		A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	pfam_DUF159,superfamily_DUF159	p.R98C	ENST00000383463.4	37	c.292	CCDS33852.1	3	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747341	0.89663	.	.	ENSG00000183624	ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735;ENST00000509551	.	.	.	5.12	5.12	0.69794	.	0.050960	0.85682	D	0.000000	D	0.90967	0.7160	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94669	0.7855	9	0.87932	D	0	-20.1364	16.0607	0.80836	0.0:1.0:0.0:0.0	.	98;98	E7EMP6;Q96FZ2	.;CC037_HUMAN	C	98	.	ENSP00000372955:R98C	R	+	1	0	C3orf37	130490495	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	5.165000	0.64959	2.392000	0.81423	0.591000	0.81541	CGT	0	pfam_DUF159,superfamily_DUF159		0.473	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCES	protein_coding	OTTHUMT00000355470.2	114	216	0.87	0.00	1	0	C	NM_020187	0	0		129007805	1	no_errors	ENST00000383463	ensembl	human	known	74_37	missense	70	263	28.57	22.42	28	76	SNP	1	T
COL6A5	256076	genome.wustl.edu	37	3	130187649	130187649	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:130187649T>A	ENST00000432398.2	+	38	7295	c.6801T>A	c.(6799-6801)aaT>aaA	p.N2267K	COL6A5_ENST00000265379.6_Missense_Mutation_p.N2267K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2267	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GACATGAAAATTATGGCAGAA	0.378																																							0											0													29.0	27.0	28.0					3																	130187649		1844	4097	5941	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6801T>A	3.37:g.130187649T>A	ENSP00000390895:p.Asn2267Lys		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.N2267K	ENST00000432398.2	37	c.6801		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.350|9.350	1.065241|1.065241	0.20067|0.20067	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;T;T	.|0.88741	.|-2.32;-2.42;-0.85;-0.7	5.08|5.08	-2.75|-2.75	0.05914|0.05914	.|.	.|0.337088	.|0.25178	.|N	.|0.032558	T|T	0.76176|0.76176	0.3951|0.3951	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P;P	.|0.39862	.|0.454;0.692	.|B;B	.|0.29862	.|0.084;0.108	T|T	0.66941|0.66941	-0.5796|-0.5796	5|10	.|0.18710	.|T	.|0.47	.|.	1.5183|1.5183	0.02510|0.02510	0.144:0.3402:0.1457:0.3701|0.144:0.3402:0.1457:0.3701	.|.	.|2267;2267	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	I|K	519|2267;2267;210;102	.|ENSP00000390895:N2267K;ENSP00000265379:N2267K;ENSP00000362250:N210K;ENSP00000424968:N102K	.|ENSP00000265379:N2267K	L|N	+|+	1|3	2|2	COL6A5|COL6A5	131670339|131670339	0.000000|0.000000	0.05858|0.05858	0.394000|0.394000	0.26270|0.26270	0.868000|0.868000	0.49771|0.49771	-0.183000|-0.183000	0.09712|0.09712	-0.312000|-0.312000	0.08741|0.08741	0.528000|0.528000	0.53228|0.53228	TTA|AAT	0	NULL		0.378	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		51	213	0	0.00	0	0	T	NM_153264	0	0		130187649	1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	50	293	12.28	25.82	7	102	SNP	0.034	A
NPHP3	27031	genome.wustl.edu	37	3	132440645	132440645	+	Intron	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:132440645A>G	ENST00000337331.5	-	1	480				NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000383282.2_Intron|NPHP3_ENST00000343113.4_Intron|NPHP3-AS1_ENST00000504440.1_RNA|NPHP3_ENST00000326682.8_Intron	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						agacagaaaaaGGGGAGGGTT	0.517																																							0											0																																										SO:0001627	intron_variant	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.393+161T>C	3.37:g.132440645A>G			Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	RNA	SNP	0	NULL	ENST00000337331.5	37	NULL	CCDS3078.1	3																																																																																			0	0		0.517	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3-AS1	protein_coding	OTTHUMT00000357020.2	107	120	0	0.83	0	1	A	NM_153240	0	0		132440645	1	no_errors	ENST00000489343	ensembl	human	known	74_37	rna	91	177	26.61	22.03	33	50	SNP	0.174	G
STAG1	10274	genome.wustl.edu	37	3	136221539	136221539	+	Silent	SNP	G	G	A	rs113504457	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:136221539G>A	ENST00000383202.2	-	8	1015	c.759C>T	c.(757-759)gcC>gcT	p.A253A	STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	253					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A253A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATTTCTCTCGGCTTCATATT	0.383																																							0											1	Substitution - coding silent(1)	lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	143.0	135.0	138.0		759	-7.6	1.0	3	dbSNP_132	138	0,8600		0,0,4300	no	coding-synonymous	STAG1	NM_005862.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1259	136221539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.759C>T	3.37:g.136221539G>A			O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A253	ENST00000383202.2	37	c.759	CCDS3090.1	3																																																																																			0	pfam_STAG,superfamily_ARM-type_fold		0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	protein_coding	OTTHUMT00000357366.1	86	242	0	0.00	0	0	G	NM_005862	rs113504457	G->A		136221539	-1	no_errors	ENST00000383202	ensembl	human	known	74_37	silent	60	290	23.08	23.76	18	91	SNP	0.169	A
NME9	347736	genome.wustl.edu	37	3	138023764	138023764	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:138023764C>T	ENST00000333911.3	-	9	769	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	NME9_ENST00000536478.1_Missense_Mutation_p.V187I|NME9_ENST00000484930.1_Missense_Mutation_p.V185I|NME9_ENST00000383180.2_Missense_Mutation_p.V187I|NME9_ENST00000341790.5_Missense_Mutation_p.V185I|NME9_ENST00000317876.4_Missense_Mutation_p.V187I			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	248	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.V187I(1)									GGGCCCATGACGGTTCGCCAG	0.567																																							0											1	Substitution - Missense(1)	breast(1)											154.0	136.0	142.0					3																	138023764		2203	4300	6503	SO:0001583	missense	0			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.742G>A	3.37:g.138023764C>T	ENSP00000335444:p.Val248Ile		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.V248I	ENST00000333911.3	37	c.742		3	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.057225	0.01965	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.17	-5.46	0.02608	.	0.663621	0.15634	N	0.252247	T	0.17195	0.0413	.	.	.	0.09310	N	1	B;B;B	0.24576	0.0;0.106;0.001	B;B;B	0.17098	0.001;0.017;0.002	T	0.22800	-1.0206	9	0.13853	T	0.58	-1.9792	1.265	0.02009	0.4589:0.1277:0.1383:0.2751	.	185;248;187	Q86XW9-3;Q86XW9;Q86XW9-2	.;TXND6_HUMAN;.	I	187;187;185;185;187;248	ENSP00000372667:V187I;ENSP00000321929:V187I;ENSP00000419882:V185I;ENSP00000341084:V185I;ENSP00000440143:V187I;ENSP00000335444:V248I	ENSP00000321929:V187I	V	-	1	0	TXNDC6	139506454	0.182000	0.23173	0.002000	0.10522	0.000000	0.00434	0.500000	0.22562	-0.789000	0.04498	-4.357000	0.00007	GTC	0	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.567	NME9-003	KNOWN	basic|appris_principal	protein_coding	NME9	protein_coding	OTTHUMT00000357583.1	16	89	0	0.00	0	0	C	NM_178130	0	0		138023764	-1	no_errors	ENST00000333911	ensembl	human	known	74_37	missense	16	129	27.27	22.75	6	38	SNP	0.033	T
ESYT3	83850	genome.wustl.edu	37	3	138183253	138183253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:138183253C>T	ENST00000389567.4	+	9	1168	c.982C>T	c.(982-984)Cga>Tga	p.R328*		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	328	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TCTGGGGCTCCGAGGCAAGTC	0.577																																							0											0													75.0	69.0	71.0					3																	138183253		2203	4300	6503	SO:0001587	stop_gained	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.982C>T	3.37:g.138183253C>T	ENSP00000374218:p.Arg328*		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.R328*	ENST00000389567.4	37	c.982	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	C	34	5.359926	0.95877	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.78	1.67	0.24075	.	0.382752	0.24866	N	0.034965	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-20.1399	8.261	0.31786	0.1348:0.4854:0.3798:0.0	.	.	.	.	X	328	.	ENSP00000374218:R328X	R	+	1	2	ESYT3	139665943	0.029000	0.19370	0.294000	0.24946	0.896000	0.52359	1.607000	0.36836	0.606000	0.29965	0.455000	0.32223	CGA	0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom		0.577	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	protein_coding	OTTHUMT00000303993.1	33	87	0	0.00	0	0	C	NM_031913	0	0		138183253	1	no_errors	ENST00000389567	ensembl	human	known	74_37	nonsense	34	98	8.11	30.50	3	43	SNP	0.016	T
CLSTN2	64084	genome.wustl.edu	37	3	140123400	140123400	+	Splice_Site	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:140123400G>T	ENST00000458420.3	+	4	619	c.429G>T	c.(427-429)aaG>aaT	p.K143N	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	143	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGGTCCCAGGGCCGTGGTCC	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)		0											0													74.0	63.0	67.0					3																	140123400		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.429-1G>T	3.37:g.140123400G>T			B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K143N	ENST00000458420.3	37	c.429	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144690	0.57044	.	.	ENSG00000158258	ENST00000458420	T	0.48836	0.8	5.51	5.51	0.81932	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.55179	-0.8181	9	.	.	.	.	10.3753	0.44079	0.0887:0.0:0.9113:0.0	.	143	Q9H4D0	CSTN2_HUMAN	N	143	ENSP00000402460:K143N	.	K	+	3	2	CLSTN2	141606090	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.713000	0.74686	2.584000	0.87258	0.563000	0.77884	AAG	0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	protein_coding	OTTHUMT00000359393.3	72	217	0	0.00	0	0	G	NM_022131	0	0	Missense_Mutation	140123400	1	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	51	260	26.09	23.84	18	82	SNP	1	T
PXYLP1	92370	genome.wustl.edu	37	3	141011863	141011863	+	Missense_Mutation	SNP	G	G	A	rs150898568		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:141011863G>A	ENST00000286353.4	+	6	1396	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q	ACPL2_ENST00000504264.1_Missense_Mutation_p.R403Q|ACPL2_ENST00000502783.1_Missense_Mutation_p.R382Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R404Q|ACPL2_ENST00000393010.2_Missense_Mutation_p.R420Q|ACPL2_ENST00000508812.1_Missense_Mutation_p.R411Q|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		420						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CATTCCGTCCGGATTCTTTAC	0.517																																							0											0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	134.0	129.0	131.0		1259,1259	5.7	0.5	3	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	420/481,420/481	141011863	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000286353.4:c.1259G>A	3.37:g.141011863G>A	ENSP00000286353:p.Arg420Gln		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.R420Q	ENST00000286353.4	37	c.1259	CCDS3116.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.858604|4.858604	0.91433|0.91433	0.0|0.0	1.16E-4|1.16E-4	ENSG00000155893|ENSG00000155893	ENST00000332228|ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007	.|D;D;D;D;D;D	.|0.83992	.|-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91882|0.91882	0.7430|0.7430	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.985;0.998	D|D	0.91469|0.91469	0.5195|0.5195	6|10	0.48119|0.44086	T|T	0.1|0.13	.|.	17.3907|17.3907	0.87430|0.87430	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|403;420	.|B7Z3R9;Q8TE99	.|.;ACPL2_HUMAN	R|Q	216|420;382;420;403;411;404	.|ENSP00000286353:R420Q;ENSP00000422558:R382Q;ENSP00000376733:R420Q;ENSP00000426877:R403Q;ENSP00000422901:R411Q;ENSP00000376731:R404Q	ENSP00000327587:G216R|ENSP00000286353:R420Q	G|R	+|+	1|2	0|0	ACPL2|ACPL2	142494553|142494553	1.000000|1.000000	0.71417|0.71417	0.482000|0.482000	0.27366|0.27366	0.770000|0.770000	0.43624|0.43624	9.727000|9.727000	0.98787|0.98787	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GGA|CGG	0	pfam_His_Pase_superF_clade-2		0.517	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	protein_coding	OTTHUMT00000359533.2	27	235	0	0.00	0	0	G		rs150898568	G->A		141011863	1	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	21	287	25	21.15	7	77	SNP	0.992	A
ATR	545	genome.wustl.edu	37	3	142269028	142269028	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:142269028C>T	ENST00000350721.4	-	14	3043	c.2922G>A	c.(2920-2922)acG>acA	p.T974T	ATR_ENST00000383101.3_Silent_p.T910T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	974					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCAGACAACGTATTTAAAG	0.398								Other conserved DNA damage response genes																															0											0													147.0	133.0	138.0					3																	142269028		2203	4300	6503	SO:0001819	synonymous_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2922G>A	3.37:g.142269028C>T			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.T974	ENST00000350721.4	37	c.2922	CCDS3124.1	3																																																																																			0	superfamily_ARM-type_fold		0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	protein_coding	OTTHUMT00000353995.2	53	165	0	0.00	0	0	C	NM_001184	0	0		142269028	-1	no_errors	ENST00000350721	ensembl	human	known	74_37	silent	62	232	19.48	27.27	15	87	SNP	0.998	T
CHST2	9435	genome.wustl.edu	37	3	142840518	142840518	+	Missense_Mutation	SNP	G	G	A	rs142680851	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:142840518G>A	ENST00000309575.3	+	2	2244	c.860G>A	c.(859-861)cGc>cAc	p.R287H		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	287					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCCACAGCGCCTGGCGCGT	0.642																																							0											0													22.0	23.0	23.0					3																	142840518		2191	4297	6488	SO:0001583	missense	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.860G>A	3.37:g.142840518G>A	ENSP00000307911:p.Arg287His		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.R287H	ENST00000309575.3	37	c.860	CCDS3129.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123305	0.77436	.	.	ENSG00000175040	ENST00000309575	D	0.96168	-3.93	4.0	4.0	0.46444	Sulfotransferase domain (1);	0.068359	0.56097	U	0.000035	D	0.90923	0.7147	N	0.17082	0.46	0.36867	D	0.888723	D	0.54207	0.965	P	0.46389	0.515	D	0.92046	0.5644	10	0.45353	T	0.12	-13.2167	11.004	0.47622	0.0918:0.0:0.9082:0.0	.	287	Q9Y4C5	CHST2_HUMAN	H	287	ENSP00000307911:R287H	ENSP00000307911:R287H	R	+	2	0	CHST2	144323208	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.562000	0.67346	2.068000	0.61886	0.407000	0.27541	CGC	0	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.642	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	protein_coding	OTTHUMT00000354850.1	35	66	0	0.00	0	0	G	NM_004267	0	0		142840518	1	no_errors	ENST00000309575	ensembl	human	known	74_37	missense	25	77	19.35	23.00	6	23	SNP	1	A
ERICH6	131831	genome.wustl.edu	37	3	150377915	150377915	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:150377915G>A	ENST00000295910.6	-	14	1808	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	FAM194A_ENST00000491361.1_Missense_Mutation_p.L440F	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACGTATCGGAGGATTGGAATC	0.468																																							0											0													91.0	93.0	92.0					3																	150377915		2203	4300	6503	SO:0001583	missense	0																														ENST00000295910.6:c.1756C>T	3.37:g.150377915G>A	ENSP00000295910:p.Leu586Phe			Missense_Mutation	SNP	NULL	p.L586F	ENST00000295910.6	37	c.1756	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445855	0.25987	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.13778	2.56;2.56	5.22	1.4	0.22301	.	0.482216	0.19383	N	0.115609	T	0.11410	0.0278	L	0.51422	1.61	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.35549	-0.9784	10	0.16896	T	0.51	-5.387	8.0213	0.30410	0.337:0.0:0.663:0.0	.	586	Q7L0X2	F194A_HUMAN	F	586;440;544	ENSP00000295910:L586F;ENSP00000419366:L440F	ENSP00000295910:L586F	L	-	1	0	FAM194A	151860605	0.001000	0.12720	0.001000	0.08648	0.132000	0.20833	0.747000	0.26290	0.310000	0.22990	-0.156000	0.13503	CTC	0	NULL		0.468	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	protein_coding	OTTHUMT00000257666.1	51	177	0	0.00	0	0	G		0	0		150377915	-1	no_errors	ENST00000295910	ensembl	human	known	74_37	missense	33	242	17.5	18.79	7	56	SNP	0	A
AADACL2	344752	genome.wustl.edu	37	3	151461924	151461924	+	Silent	SNP	G	G	A	rs539885775		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:151461924G>A	ENST00000356517.3	+	3	514	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	135						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CGGCAAACACGCTTGATGCTG	0.363																																							0											0													168.0	158.0	161.0					3																	151461924		2203	4299	6502	SO:0001819	synonymous_variant	0			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.405G>A	3.37:g.151461924G>A			Q5HYJ4	Silent	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.T135	ENST00000356517.3	37	c.405	CCDS3161.2	3																																																																																			0	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase		0.363	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	protein_coding	OTTHUMT00000342288.3	84	248	0	0.40	0	1	G	NM_207365	rs539885775	G->A		151461924	1	no_errors	ENST00000356517	ensembl	human	known	74_37	silent	72	297	27.27	29.05	27	122	SNP	0.046	A
ARHGEF26	26084	genome.wustl.edu	37	3	153839950	153839950	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:153839950G>T	ENST00000356448.4	+	2	453	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.G57W|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.G57W|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	57					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGAGGACGGAGGGACGCTCCT	0.672																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)		0											0													15.0	18.0	17.0					3																	153839950		1917	4131	6048	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.169G>T	3.37:g.153839950G>T	ENSP00000348828:p.Gly57Trp		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G57W	ENST00000356448.4	37	c.169	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200803	0.38905	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.57436	0.4;0.4;2.22	3.96	2.16	0.27623	.	0.898917	0.09494	N	0.794535	T	0.31765	0.0807	N	0.14661	0.345	0.09310	N	1	P;P	0.41643	0.758;0.758	B;B	0.36959	0.237;0.171	T	0.15867	-1.0422	10	0.72032	D	0.01	-2.7449	4.9182	0.13856	0.2011:0.1762:0.6227:0.0	.	57;57	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	W	57	ENSP00000348828:G57W;ENSP00000423418:G57W;ENSP00000423295:G57W	ENSP00000348828:G57W	G	+	1	0	ARHGEF26	155322640	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	0.733000	0.26087	0.332000	0.23536	0.561000	0.74099	GGG	0	NULL		0.672	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	protein_coding	OTTHUMT00000353287.3	85	132	0	0.75	0	1	G	NM_015595	0	0		153839950	1	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	95	151	20.17	24.12	24	48	SNP	0.001	T
KCNAB1	7881	genome.wustl.edu	37	3	155838426	155838426	+	Missense_Mutation	SNP	C	C	T	rs370498904		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:155838426C>T	ENST00000490337.1	+	1	90	c.26C>T	c.(25-27)gCg>gTg	p.A9V	KCNAB1_ENST00000389636.5_Missense_Mutation_p.A9V	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	9					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACAGGGGCAGCGGGGAGTCAG	0.488																																							0											0								C	VAL/ALA	0,4406		0,0,2203	114.0	129.0	124.0		26	2.2	0.0	3		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	KCNAB1	NM_172160.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	9/420	155838426	2,13004	2203	4300	6503	SO:0001583	missense	0			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.26C>T	3.37:g.155838426C>T	ENSP00000419952:p.Ala9Val		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.A9V	ENST00000490337.1	37	c.26	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096801	0.36952	0.0	2.33E-4	ENSG00000169282	ENST00000490337;ENST00000389636	T;T	0.07908	3.45;3.15	5.33	2.17	0.27698	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46527	-0.9185	9	0.08179	T	0.78	.	6.6311	0.22857	0.0:0.5581:0.0:0.4419	.	9;9	B7Z8E5;Q14722	.;KCAB1_HUMAN	V	9	ENSP00000419952:A9V;ENSP00000374287:A9V	ENSP00000374287:A9V	A	+	2	0	KCNAB1	157321120	0.593000	0.26840	0.003000	0.11579	0.896000	0.52359	0.425000	0.21346	0.630000	0.30394	0.557000	0.71058	GCG	0	NULL		0.488	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	protein_coding	OTTHUMT00000351411.1	63	180	0	0.55	0	1	C	NM_003471	rs370498904	C->T		155838426	1	no_errors	ENST00000490337	ensembl	human	known	74_37	missense	36	229	30.77	22.37	16	66	SNP	0.008	T
SLITRK3	22865	genome.wustl.edu	37	3	164907221	164907221	+	Silent	SNP	G	G	A	rs140074591		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:164907221G>A	ENST00000475390.1	-	2	1841	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SLITRK3_ENST00000241274.3_Silent_p.N466N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	466					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.N466N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTCTATATCGTTGCCATTAA	0.473										HNSCC(40;0.11)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17925	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											1	Substitution - coding silent(1)	large_intestine(1)											57.0	59.0	58.0					3																	164907221		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1398C>T	3.37:g.164907221G>A			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N466	ENST00000475390.1	37	c.1398	CCDS3197.1	3																																																																																			0	smart_Leu-rich_rpt_typical-subtyp		0.473	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	protein_coding	OTTHUMT00000350126.1	55	209	0	0.00	0	0	G	NM_014926	rs140074591	G->A		164907221	-1	no_errors	ENST00000241274	ensembl	human	known	74_37	silent	55	178	31.25	25.83	25	62	SNP	0.128	A
EGFEM1P	93556	genome.wustl.edu	37	3	168539010	168539010	+	RNA	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:168539010T>C	ENST00000483846.1	+	0	577					NR_021485.2		Q0D2K5	EGFEM_HUMAN	EGF-like and EMI domain containing 1, pseudogene																		CGGAGCTGGCTGCACTTCAGA	0.463																																							0											0																																												0			AF086185		3q26.2	2010-09-24	2010-09-24	2010-09-24	ENSG00000206120	ENSG00000206120			25149	pseudogene	pseudogene			"""chromosome 3 open reading frame 50"", ""non-protein coding RNA 259"""	C3orf50, NCRNA00259		12477932	Standard	NR_021485		Approved		uc003ffh.4	Q0D2K5	OTTHUMG00000154721		3.37:g.168539010T>C				RNA	SNP	0	NULL	ENST00000483846.1	37	NULL		3																																																																																			0	0		0.463	EGFEM1P-007	KNOWN	basic	processed_transcript	EGFEM1P	pseudogene	OTTHUMT00000351389.1	47	160	0	0.00	0	0	T	NR_021485	0	0		168539010	1	no_errors	ENST00000382864	ensembl	human	known	74_37	rna	29	182	35.56	27.20	16	68	SNP	1	C
LRRC34	151827	genome.wustl.edu	37	3	169514051	169514051	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:169514051C>T	ENST00000316515.7	-	8	1156	c.880G>A	c.(880-882)Gca>Aca	p.A294T	LRRC34_ENST00000446859.1_Missense_Mutation_p.A339T|LRRC34_ENST00000522830.1_Missense_Mutation_p.A278T|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522526.2_Missense_Mutation_p.A307T|LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.7_ENST00000602913.1_RNA	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	294										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGATAGTTTGCGCCTGCATTT	0.328																																							0											0													117.0	115.0	115.0					3																	169514051		2202	4300	6502	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.880G>A	3.37:g.169514051C>T	ENSP00000326150:p.Ala294Thr		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A339T	ENST00000316515.7	37	c.1015		3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970456	0.74246	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.47	4.51	0.55191	.	0.048172	0.85682	D	0.000000	T	0.75287	0.3829	M	0.86864	2.845	0.50171	D	0.999852	D;D;D;D;D	0.89917	0.998;0.992;0.999;1.0;0.999	P;P;D;D;D	0.69142	0.874;0.727;0.962;0.958;0.939	T	0.80221	-0.1472	10	0.62326	D	0.03	-19.9946	16.9331	0.86196	0.1366:0.8634:0.0:0.0	.	326;278;278;339;294	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	T	339;294;278;307	ENSP00000414635:A339T;ENSP00000326150:A294T;ENSP00000429593:A278T;ENSP00000429278:A307T	ENSP00000326150:A294T	A	-	1	0	LRRC34	170996745	0.993000	0.37304	0.865000	0.33974	0.731000	0.41821	3.273000	0.51623	2.558000	0.86282	0.585000	0.79938	GCA	0	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.328	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	protein_coding		34	247	0	0.00	0	0	C	NM_153353	0	0		169514051	-1	no_errors	ENST00000446859	ensembl	human	known	74_37	missense	41	255	24.07	26.09	13	90	SNP	0.792	T
USP13	8975	genome.wustl.edu	37	3	179470125	179470125	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:179470125T>A	ENST00000263966.3	+	14	2233	c.1762T>A	c.(1762-1764)Ttc>Atc	p.F588I	USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Missense_Mutation_p.F523I	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	588	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GATAAAGAAGTTCACTTTTGG	0.378																																							0											0													223.0	209.0	214.0					3																	179470125		2203	4300	6503	SO:0001583	missense	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1762T>A	3.37:g.179470125T>A	ENSP00000263966:p.Phe588Ile		A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.F588I	ENST00000263966.3	37	c.1762	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	T	34	5.301103	0.95601	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.44482	0.92;0.92;0.92	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64241	-0.6454	10	0.42905	T	0.14	-16.2995	15.6362	0.76953	0.0:0.0:0.0:1.0	.	588	Q92995	UBP13_HUMAN	I	588;523;234	ENSP00000263966:F588I;ENSP00000417146:F523I;ENSP00000420057:F234I	ENSP00000263966:F588I	F	+	1	0	USP13	180952819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.090000	0.63153	0.460000	0.39030	TTC	0	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67		0.378	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	protein_coding	OTTHUMT00000349617.1	117	244	0	0.00	0	0	T		0	0		179470125	1	no_errors	ENST00000263966	ensembl	human	known	74_37	missense	107	365	15.75	19.78	20	90	SNP	1	A
KLHL6	89857	genome.wustl.edu	37	3	183209837	183209837	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:183209837C>T	ENST00000341319.3	-	7	1779	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	582					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TTCTGGGCCTCGGGGTCCCAG	0.657																																							0											0													102.0	97.0	99.0					3																	183209837		2203	4300	6503	SO:0001583	missense	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1744G>A	3.37:g.183209837C>T	ENSP00000341342:p.Glu582Lys		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E582K	ENST00000341319.3	37	c.1744	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203914	0.38905	.	.	ENSG00000172578	ENST00000341319	T	0.78126	-1.15	5.66	5.66	0.87406	Kelch-type beta propeller (1);	0.176476	0.51477	D	0.000099	T	0.71143	0.3305	L	0.41415	1.275	0.45183	D	0.998199	B	0.26935	0.164	B	0.22753	0.041	T	0.65606	-0.6127	10	0.19147	T	0.46	.	19.7288	0.96175	0.0:1.0:0.0:0.0	.	582	Q8WZ60	KLHL6_HUMAN	K	582	ENSP00000341342:E582K	ENSP00000341342:E582K	E	-	1	0	KLHL6	184692531	0.993000	0.37304	0.999000	0.59377	0.987000	0.75469	4.765000	0.62271	2.673000	0.90976	0.491000	0.48974	GAG	0	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.657	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	protein_coding	OTTHUMT00000309024.1	60	95	0	0.00	0	0	C	NM_130446	0	0		183209837	-1	no_errors	ENST00000341319	ensembl	human	known	74_37	missense	51	118	27.14	22.22	19	34	SNP	0.994	T
KLHL24	54800	genome.wustl.edu	37	3	183388867	183388867	+	Missense_Mutation	SNP	G	G	A	rs141080869	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:183388867G>A	ENST00000454652.2	+	7	1656	c.1270G>A	c.(1270-1272)Gta>Ata	p.V424I	KLHL24_ENST00000242810.6_Missense_Mutation_p.V424I|KLHL24_ENST00000476808.1_Missense_Mutation_p.V424I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	424						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACTTAGCAGCGTAGAATGTTA	0.388																																							0											0								G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	231.0	219.0	223.0		1270	5.4	1.0	3	dbSNP_134	223	0,8600		0,0,4300	yes	missense	KLHL24	NM_017644.3	29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging	424/601	183388867	8,12998	2203	4300	6503	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1270G>A	3.37:g.183388867G>A	ENSP00000395012:p.Val424Ile		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V424I	ENST00000454652.2	37	c.1270	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.435660	0.96150	0.001816	0.0	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	D;D;D	0.85411	-1.98;-1.98;-1.98	5.36	5.36	0.76844	Galactose oxidase, beta-propeller (1);	0.059484	0.64402	D	0.000003	D	0.92047	0.7480	M	0.77406	2.37	0.80722	D	1	P;D	0.67145	0.856;0.996	B;D	0.63703	0.2;0.917	D	0.92745	0.6211	10	0.72032	D	0.01	.	19.1265	0.93386	0.0:0.0:1.0:0.0	.	424;424	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	I	424	ENSP00000242810:V424I;ENSP00000395012:V424I;ENSP00000419010:V424I	ENSP00000242810:V424I	V	+	1	0	KLHL24	184871561	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.869000	0.99810	2.523000	0.85059	0.655000	0.94253	GTA	0	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.388	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	protein_coding	OTTHUMT00000346586.2	73	195	0	0.00	0	0	G	NM_017644	rs141080869	G->A		183388867	1	no_errors	ENST00000242810	ensembl	human	known	74_37	missense	75	277	21.88	18.71	21	64	SNP	1	A
CAMK2N2	94032	genome.wustl.edu	37	3	183979057	183979057	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:183979057G>A	ENST00000296238.3	-	1	194	c.17C>T	c.(16-18)cCc>cTc	p.P6L	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	6						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein kinase inhibitor activity (GO:0008427)					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TTCGCTGTAGGGCAGGATCTC	0.741																																							0											0													16.0	17.0	17.0					3																	183979057		2201	4299	6500	SO:0001583	missense	0			AY037149	CCDS3257.1	3q27.1	2006-03-27			ENSG00000163888	ENSG00000163888			24197	protein-coding gene	gene with protein product		608721				11444830, 9724800	Standard	NM_033259		Approved	CaM-KIIN	uc003fnj.1	Q96S95	OTTHUMG00000156821	ENST00000296238.3:c.17C>T	3.37:g.183979057G>A	ENSP00000296238:p.Pro6Leu			Missense_Mutation	SNP	NULL	p.P6L	ENST00000296238.3	37	c.17	CCDS3257.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.072054	0.93950	.	.	ENSG00000163888	ENST00000296238	.	.	.	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.74839	0.3769	.	.	.	0.80722	D	1	D	0.55172	0.97	P	0.60173	0.87	T	0.79271	-0.1872	8	0.87932	D	0	-1.7948	13.4147	0.60961	0.0:0.0:1.0:0.0	.	6	Q96S95	CK2N2_HUMAN	L	6	.	ENSP00000296238:P6L	P	-	2	0	CAMK2N2	185461751	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.436000	0.73417	1.723000	0.51488	0.563000	0.77884	CCC	0	NULL		0.741	CAMK2N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2N2	protein_coding	OTTHUMT00000346010.1	15	55	0	0.00	0	0	G	NM_033259	0	0		183979057	-1	no_errors	ENST00000296238	ensembl	human	known	74_37	missense	14	61	48.28	19.74	14	15	SNP	1	A
EPHB3	2049	genome.wustl.edu	37	3	184295133	184295133	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:184295133C>A	ENST00000330394.2	+	6	1809	c.1357C>A	c.(1357-1359)Ccg>Acg	p.P453T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTTCCCAGCCCCGTCTGAAGT	0.647																																							0											0													39.0	43.0	42.0					3																	184295133		2203	4300	6503	SO:0001583	missense	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1357C>A	3.37:g.184295133C>A	ENSP00000332118:p.Pro453Thr		Q7Z740	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P453T	ENST00000330394.2	37	c.1357	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792800	0.90453	.	.	ENSG00000182580	ENST00000330394	T	0.63096	-0.02	5.6	5.6	0.85130	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	H	0.95365	3.66	0.80722	D	1	D	0.65815	0.995	P	0.57009	0.811	D	0.88395	0.3011	10	0.87932	D	0	.	18.6062	0.91266	0.0:1.0:0.0:0.0	.	453	P54753	EPHB3_HUMAN	T	453	ENSP00000332118:P453T	ENSP00000332118:P453T	P	+	1	0	EPHB3	185777827	1.000000	0.71417	0.992000	0.48379	0.855000	0.48748	7.771000	0.85420	2.649000	0.89929	0.448000	0.29417	CCG	0	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	protein_coding	OTTHUMT00000345413.1	30	91	0	1.09	0	1	C	NM_004443	0	0		184295133	1	no_errors	ENST00000330394	ensembl	human	known	74_37	missense	31	73	20.51	21.51	8	20	SNP	1	A
MAP3K13	9175	genome.wustl.edu	37	3	185190885	185190885	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:185190885G>A	ENST00000265026.3	+	11	2100	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	MAP3K13_ENST00000424227.1_Missense_Mutation_p.R589H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.R382H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R445H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R445H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCAAACCACGCCACCGCCGA	0.552																																							0											0													203.0	225.0	218.0					3																	185190885		2203	4300	6503	SO:0001583	missense	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1766G>A	3.37:g.185190885G>A	ENSP00000265026:p.Arg589His			Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R589H	ENST00000265026.3	37	c.1766	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.236366	0.95240	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.47	5.47	0.80525	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.12268	-1.0554	10	0.56958	D	0.05	.	19.3275	0.94268	0.0:0.0:1.0:0.0	.	445;382;589	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	382;589;445;445;589	ENSP00000411483:R382H;ENSP00000399910:R589H;ENSP00000409325:R445H;ENSP00000439257:R445H;ENSP00000265026:R589H	ENSP00000265026:R589H	R	+	2	0	MAP3K13	186673579	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.559000	0.98135	2.552000	0.86080	0.561000	0.74099	CGC	0	pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom		0.552	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	protein_coding	OTTHUMT00000345268.1	82	199	0	0.00	0	0	G	NM_004721	0	0		185190885	1	no_errors	ENST00000265026	ensembl	human	known	74_37	missense	75	239	13.79	23.32	12	73	SNP	1	A
LEPREL1	55214	genome.wustl.edu	37	3	189681863	189681863	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:189681863G>A	ENST00000319332.5	-	14	2115	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459C	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	640	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGATCATGCGCCCACATTTT	0.463																																							0											0													79.0	78.0	78.0					3																	189681863		2203	4300	6503	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1918C>T	3.37:g.189681863G>A	ENSP00000316881:p.Arg640Cys		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R640C	ENST00000319332.5	37	c.1918	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107911	0.77096	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.63417	-0.04;-0.04	5.91	5.91	0.95273	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.80649	0.4663	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81433	-0.0935	9	.	.	.	-14.1731	15.6677	0.77242	0.0:0.0:0.8627:0.1373	.	640	Q8IVL5	P3H2_HUMAN	C	640;459	ENSP00000316881:R640C;ENSP00000408947:R459C	.	R	-	1	0	LEPREL1	191164557	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	3.347000	0.52200	2.793000	0.96121	0.655000	0.94253	CGC	0	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph		0.463	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	protein_coding	OTTHUMT00000343855.1	38	137	0	0.00	0	0	G	NM_018192	0	0		189681863	-1	no_errors	ENST00000319332	ensembl	human	known	74_37	missense	41	239	21.15	18.43	11	54	SNP	0.989	A
ATP5I	521	genome.wustl.edu	37	4	668094	668094	+	5'UTR	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:668094A>G	ENST00000304312.4	-	0	33				MYL5_ENST00000505477.1_Intron|MYL5_ENST00000511290.1_5'Flank|MYL5_ENST00000506838.1_5'UTR|ATP5I_ENST00000506525.1_5'Flank	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E						ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2						GATGCCGCACAAGCCAGCAAA	0.677																																							0											0													22.0	32.0	29.0					4																	668094		691	1587	2278	SO:0001623	5_prime_UTR_variant	0			AB028624	CCDS3337.1	4p16.3	2012-10-12	2010-06-11		ENSG00000169020	ENSG00000169020		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	846	protein-coding gene	gene with protein product		601519	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E"""			8702853	Standard	NM_007100		Approved		uc003gas.3	P56385	OTTHUMG00000086929	ENST00000304312.4:c.-58T>C	4.37:g.668094A>G			Q0D2L9	RNA	SNP	0	NULL	ENST00000304312.4	37	NULL	CCDS3337.1	4																																																																																			0	0		0.677	ATP5I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5I	protein_coding	OTTHUMT00000195856.2	42	28	0	0.00	0	0	A		0	0		668094	-1	no_errors	ENST00000505852	ensembl	human	known	74_37	rna	16	26	15.79	18.75	3	6	SNP	0	G
MYL5	4636	genome.wustl.edu	37	4	673725	673725	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:673725C>T	ENST00000400159.2	+	4	315	c.210C>T	c.(208-210)gaC>gaT	p.D70D	MYL5_ENST00000505477.1_Silent_p.D29D|MYL5_ENST00000511290.1_Silent_p.D29D|MYL5_ENST00000506838.1_Silent_p.D29D	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	70					regulation of muscle contraction (GO:0006937)	muscle myosin complex (GO:0005859)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(1)|kidney(1)|lung(1)	3						TCAAGGACGACGAGCTGGACG	0.612																																							0											0													88.0	102.0	97.0					4																	673725		2197	4299	6496	SO:0001819	synonymous_variant	0				CCDS43197.1	4p16	2013-01-10	2006-09-29		ENSG00000215375	ENSG00000215375		"""Myosins / Light chain"", ""EF-hand domain containing"""	7586	protein-coding gene	gene with protein product		160782	"""myosin, light polypeptide 5, regulatory"""			1284596	Standard	NM_002477		Approved		uc003gav.3	Q02045	OTTHUMG00000159971	ENST00000400159.2:c.210C>T	4.37:g.673725C>T			Q8IXL8	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D70	ENST00000400159.2	37	c.210	CCDS43197.1	4																																																																																			0	NULL		0.612	MYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL5	protein_coding	OTTHUMT00000358570.2	49	82	0	0.00	0	0	C	NM_002477	0	0		673725	1	no_errors	ENST00000400159	ensembl	human	known	74_37	silent	22	90	12	23.73	3	28	SNP	0.011	T
TMEM175	84286	genome.wustl.edu	37	4	947094	947094	+	Silent	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:947094G>T	ENST00000264771.4	+	8	764	c.579G>T	c.(577-579)ccG>ccT	p.P193P	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Silent_p.P77P|TMEM175_ENST00000508204.1_Silent_p.P111P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	193						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCAAGGCCCGGCCCTGTGCT	0.652																																							0											0													132.0	114.0	120.0					4																	947094		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.579G>T	4.37:g.947094G>T			D3DVN4|Q8ND13	Silent	SNP	pfam_DUF1211_TMEM175	p.P193	ENST00000264771.4	37	c.579	CCDS3341.1	4																																																																																			0	NULL		0.652	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	protein_coding	OTTHUMT00000239193.2	14	76	0	0.00	0	0	G	NM_032326	0	0		947094	1	no_errors	ENST00000264771	ensembl	human	known	74_37	silent	6	80	45.45	19.19	5	19	SNP	0	T
FGFR3	2261	genome.wustl.edu	37	4	1807583	1807583	+	Silent	SNP	G	G	A	rs139020690		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:1807583G>A	ENST00000260795.2	+	12	1854	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	FGFR3_ENST00000340107.4_Silent_p.P586P|FGFR3_ENST00000352904.1_Silent_p.P472P|FGFR3_ENST00000412135.2_Silent_p.P472P|FGFR3_ENST00000440486.2_Silent_p.P584P|FGFR3_ENST00000481110.2_Silent_p.P585P			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	584	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTGCAAGCCGCCCGAGGAGC	0.677		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																														0		Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	0								G	,,	0,4404		0,0,2202	45.0	55.0	52.0		1752,1758,1416	2.4	1.0	4	dbSNP_134	52	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFR3	NM_000142.4,NM_001163213.1,NM_022965.3	,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,,	584/807,586/809,472/695	1807583	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1752G>A	4.37:g.1807583G>A			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P586	ENST00000260795.2	37	c.1758	CCDS3353.1	4																																																																																			0	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	protein_coding	OTTHUMT00000241632.2	67	79	0	0.00	0	0	G	NM_000142	rs139020690	G->A		1807583	1	no_errors	ENST00000340107	ensembl	human	known	74_37	silent	39	101	22	27.34	11	38	SNP	0.999	A
Unknown	0	genome.wustl.edu	37	4	2438654	2438654	+	IGR	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:2438654C>T								RP11-503N18.1 (7682 upstream) : RP11-503N18.3 (13045 downstream)																							CTGGGTGCCTCGAGTACCGGA	0.642																																							0											0																																										SO:0001628	intergenic_variant	0																															4.37:g.2438654C>T				RNA	SNP	0	NULL		37	NULL		4																																																																																			0	0	0	0.642					ENSG00000206113			82	149	0	0.00	0	0	C		0	0		2438654	1	no_errors	ENST00000511731	ensembl	human	known	74_37	rna	50	105	26.47	28.08	18	41	SNP	0.004	T
RGS12	6002	genome.wustl.edu	37	4	3319272	3319272	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:3319272G>A	ENST00000344733.5	+	2	2279	c.1375G>A	c.(1375-1377)Ggt>Agt	p.G459S	RGS12_ENST00000336727.3_Missense_Mutation_p.G459S|RGS12_ENST00000543385.1_Missense_Mutation_p.G459S|RGS12_ENST00000382788.3_Missense_Mutation_p.G459S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	459					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCGTGGGACGGTGTGGGTGG	0.682																																							0											0													35.0	43.0	40.0					4																	3319272		2203	4299	6502	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1375G>A	4.37:g.3319272G>A	ENSP00000339381:p.Gly459Ser		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G459S	ENST00000344733.5	37	c.1375	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	1.308	-0.602906	0.03744	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.25579	1.79;1.88;1.88;1.88	3.88	1.86	0.25419	.	0.610798	0.17634	N	0.167267	T	0.11580	0.0282	N	0.22421	0.69	0.18873	N	0.999989	B;B;B	0.20052	0.041;0.008;0.014	B;B;B	0.12837	0.003;0.003;0.008	T	0.34825	-0.9813	10	0.02654	T	1	-5.6464	5.8878	0.18892	0.3717:0.0:0.6283:0.0	.	459;459;459	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	S	459	ENSP00000440566:G459S;ENSP00000339381:G459S;ENSP00000338509:G459S;ENSP00000372238:G459S	ENSP00000338509:G459S	G	+	1	0	RGS12	3289070	0.445000	0.25657	0.012000	0.15200	0.153000	0.21895	2.518000	0.45537	0.817000	0.34445	0.491000	0.48974	GGT	0	NULL		0.682	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	protein_coding	OTTHUMT00000206602.1	44	99	0	0.00	0	0	G	NM_002926	0	0		3319272	1	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	18	103	41.94	33.33	13	52	SNP	0.017	A
SH3TC1	54436	genome.wustl.edu	37	4	8229977	8229977	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:8229977G>A	ENST00000245105.3	+	12	2623	c.2556G>A	c.(2554-2556)cgG>cgA	p.R852R	SH3TC1_ENST00000539824.1_Silent_p.R776R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	852										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGTCTGTCCGGGATGCAGTGG	0.677																																					NSCLC(145;2298 2623 35616 37297)		0											0													36.0	35.0	35.0					4																	8229977		2203	4299	6502	SO:0001819	synonymous_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2556G>A	4.37:g.8229977G>A			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.R852	ENST00000245105.3	37	c.2556	CCDS3399.1	4																																																																																			0	NULL		0.677	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	protein_coding	OTTHUMT00000206991.2	16	100	0	0.00	0	0	G	NM_018986	0	0		8229977	1	no_errors	ENST00000245105	ensembl	human	known	74_37	silent	7	70	22.22	23.08	2	21	SNP	0	A
WDR1	9948	genome.wustl.edu	37	4	10089931	10089931	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:10089931C>T	ENST00000499869.2	-	7	896	c.703G>A	c.(703-705)Ggt>Agt	p.G235S	WDR1_ENST00000382451.2_Missense_Mutation_p.G95S|WDR1_ENST00000382452.2_Missense_Mutation_p.G235S|WDR1_ENST00000502702.1_Missense_Mutation_p.G95S|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	235					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TAAATCCCACCGTCGTGGGCC	0.537																																							0											0													52.0	53.0	53.0					4																	10089931		2056	4143	6199	SO:0001583	missense	0			AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.703G>A	4.37:g.10089931C>T	ENSP00000427687:p.Gly235Ser		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G235S	ENST00000499869.2	37	c.703	CCDS54740.1	4	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658784	0.88154	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733;ENST00000508079	T;T;T;T;T	0.59502	1.37;1.37;0.26;0.26;0.58	5.3	5.3	0.74995	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	0.67998	0.2953	L	0.35793	1.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.64976	-0.6280	10	0.33141	T	0.24	-13.1316	17.9415	0.89027	0.0:1.0:0.0:0.0	.	70;95;235	B4DY05;O75083-3;O75083	.;.;WDR1_HUMAN	S	235;235;95;95;70;239	ENSP00000427687:G235S;ENSP00000371890:G235S;ENSP00000371889:G95S;ENSP00000426725:G95S;ENSP00000425481:G239S	ENSP00000371889:G95S	G	-	1	0	WDR1	9699029	1.000000	0.71417	0.672000	0.29872	0.250000	0.25880	6.903000	0.75703	2.482000	0.83794	0.563000	0.77884	GGT	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.537	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR1	protein_coding	OTTHUMT00000359877.1	52	208	1.89	0.48	1	1	C		0	0		10089931	-1	no_errors	ENST00000382452	ensembl	human	known	74_37	missense	29	194	30.95	23.32	13	59	SNP	1	T
ZNF518B	85460	genome.wustl.edu	37	4	10446515	10446515	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:10446515C>T	ENST00000326756.3	-	3	1876	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	480					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CCTTTTAAGGCAACGGAAGGA	0.343																																							0											0													71.0	75.0	74.0					4																	10446515		2203	4300	6503	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1438G>A	4.37:g.10446515C>T	ENSP00000317614:p.Ala480Thr		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A480T	ENST00000326756.3	37	c.1438	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919843	0.52653	.	.	ENSG00000178163	ENST00000326756	T	0.01947	4.54	5.43	-1.5	0.08691	.	1.010160	0.07960	N	0.982164	T	0.01870	0.0059	N	0.22421	0.69	0.09310	N	1	P	0.35745	0.518	B	0.30401	0.115	T	0.48822	-0.9001	10	0.48119	T	0.1	-6.3153	10.2323	0.43262	0.5754:0.3554:0.0:0.0692	.	480	Q9C0D4	Z518B_HUMAN	T	480	ENSP00000317614:A480T	ENSP00000317614:A480T	A	-	1	0	ZNF518B	10055613	0.034000	0.19679	0.001000	0.08648	0.348000	0.29142	0.066000	0.14489	-0.141000	0.11374	0.655000	0.94253	GCC	0	NULL		0.343	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	protein_coding	OTTHUMT00000359040.1	58	335	0	0.30	0	1	C	NM_053042	0	0		10446515	-1	no_errors	ENST00000326756	ensembl	human	known	74_37	missense	41	244	24.07	24.07	13	78	SNP	0	T
SLC34A2	10568	genome.wustl.edu	37	4	25674846	25674846	+	Missense_Mutation	SNP	G	G	A	rs560657112		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:25674846G>A	ENST00000382051.3	+	10	1236	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.A395T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.A395T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	396					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGGGCAGGTCGCCACTGTCAT	0.537			T	ROS1	NSCLC								G|||	1	0.000199681	0.0	0.0014	5008	,	,		18660	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997		Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													138.0	115.0	122.0					4																	25674846		2203	4300	6503	SO:0001583	missense	0			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1186G>A	4.37:g.25674846G>A	ENSP00000371483:p.Ala396Thr		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt	p.A396T	ENST00000382051.3	37	c.1186	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099774	0.56183	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.86164	-2.08;-2.08;-2.08	5.2	5.2	0.72013	.	0.050649	0.85682	D	0.000000	D	0.91788	0.7402	M	0.81112	2.525	0.80722	D	1	D;D	0.67145	0.994;0.996	P;P	0.57720	0.733;0.826	D	0.92031	0.5633	10	0.52906	T	0.07	-20.659	13.997	0.64409	0.0:0.0:0.8487:0.1513	.	395;396	O95436-2;O95436	.;NPT2B_HUMAN	T	395;396;395	ENSP00000425501:A395T;ENSP00000371483:A396T;ENSP00000423021:A395T	ENSP00000371483:A396T	A	+	1	0	SLC34A2	25283944	1.000000	0.71417	0.111000	0.21465	0.017000	0.09413	7.871000	0.87180	2.596000	0.87737	0.561000	0.74099	GCC	0	pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt		0.537	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	protein_coding	OTTHUMT00000214990.1	19	49	0	0.00	0	0	G	NM_006424	rs560657112	G->A		25674846	1	no_errors	ENST00000382051	ensembl	human	known	74_37	missense	15	45	25	29.69	5	19	SNP	0.997	A
PDS5A	23244	genome.wustl.edu	37	4	39875961	39875961	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:39875961C>T	ENST00000303538.8	-	20	2764	c.2225G>A	c.(2224-2226)tGt>tAt	p.C742Y		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGCGTGTATACAGTGCACAGC	0.328																																							0											0													124.0	114.0	117.0					4																	39875961		1826	4084	5910	SO:0001583	missense	0			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2225G>A	4.37:g.39875961C>T	ENSP00000303427:p.Cys742Tyr			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C742Y	ENST00000303538.8	37	c.2225	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729373	0.89390	.	.	ENSG00000121892	ENST00000303538	T	0.67345	-0.26	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82719	0.5098	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.83017	-0.0169	9	.	.	.	-7.2481	19.1434	0.93455	0.0:1.0:0.0:0.0	.	742	Q29RF7	PDS5A_HUMAN	Y	742	ENSP00000303427:C742Y	.	C	-	2	0	PDS5A	39552356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.527000	0.85204	0.655000	0.94253	TGT	0	superfamily_ARM-type_fold		0.328	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	protein_coding	OTTHUMT00000361287.1	168	282	0	0.00	0	0	C	NM_015200	0	0		39875961	-1	no_errors	ENST00000303538	ensembl	human	known	74_37	missense	90	234	23.73	28.79	28	95	SNP	1	T
SLC10A4	201780	genome.wustl.edu	37	4	48485994	48485994	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:48485994C>T	ENST00000273861.4	+	1	635	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCCGTGGGCGCGCTGCTGGCA	0.716																																							0											0													7.0	7.0	7.0					4																	48485994		2154	4180	6334	SO:0001583	missense	0			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.416C>T	4.37:g.48485994C>T	ENSP00000273861:p.Ala139Val		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.A139V	ENST00000273861.4	37	c.416	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	c	14.45	2.538886	0.45176	.	.	ENSG00000145248	ENST00000273861	T	0.07327	3.2	5.2	4.27	0.50696	.	0.175644	0.49916	D	0.000134	T	0.01489	0.0048	N	0.00315	-1.66	0.33850	D	0.632558	B	0.16802	0.019	B	0.13407	0.009	T	0.40701	-0.9549	10	0.02654	T	1	-13.8046	4.5553	0.12133	0.0:0.7205:0.0:0.2795	.	139	Q96EP9	NTCP4_HUMAN	V	139	ENSP00000273861:A139V	ENSP00000273861:A139V	A	+	2	0	SLC10A4	48180751	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.801000	0.69115	2.706000	0.92434	0.486000	0.48141	GCG	0	pfam_BilAc/Na_symport		0.716	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	protein_coding	OTTHUMT00000219926.3	25	12	0	0.00	0	0	C	NM_152679	0	0		48485994	1	no_errors	ENST00000273861	ensembl	human	known	74_37	missense	16	11	27.27	35.29	6	6	SNP	1	T
TACR3	6870	genome.wustl.edu	37	4	104510988	104510988	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:104510988C>T	ENST00000304883.2	-	5	1389	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	417					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.D417N(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GTGTCTGCATCGTTGGGGTCA	0.527																																							0											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											261.0	240.0	247.0					4																	104510988		2203	4300	6503	SO:0001583	missense	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1249G>A	4.37:g.104510988C>T	ENSP00000303325:p.Asp417Asn		Q0P510	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.D417N	ENST00000304883.2	37	c.1249	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170378	0.21621	.	.	ENSG00000169836	ENST00000304883	T	0.63580	-0.05	5.54	3.83	0.44106	.	0.432525	0.25497	N	0.030266	T	0.60715	0.2290	M	0.77103	2.36	0.20403	N	0.9999	B	0.12630	0.006	B	0.06405	0.002	T	0.51156	-0.8741	10	0.27785	T	0.31	.	11.6752	0.51425	0.0:0.8568:0.0:0.1432	.	417	P29371	NK3R_HUMAN	N	417	ENSP00000303325:D417N	ENSP00000303325:D417N	D	-	1	0	TACR3	104730437	0.947000	0.32204	0.005000	0.12908	0.001000	0.01503	2.766000	0.47629	0.717000	0.32145	-0.216000	0.12614	GAT	0	NULL		0.527	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	protein_coding	OTTHUMT00000253804.1	50	166	0	0.00	0	0	C	NM_001059	0	0		104510988	-1	no_errors	ENST00000304883	ensembl	human	known	74_37	missense	30	177	41.18	29.76	21	75	SNP	0.322	T
UGT8	7368	genome.wustl.edu	37	4	115544174	115544174	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:115544174C>T	ENST00000310836.6	+	2	660	c.138C>T	c.(136-138)caC>caT	p.H46H	UGT8_ENST00000394511.3_Silent_p.H46H	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	46					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CAGCCTTGCACGAGAGAGGCC	0.498																																							0											0													92.0	84.0	87.0					4																	115544174		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.138C>T	4.37:g.115544174C>T			B3KXU7|O00196	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H46	ENST00000310836.6	37	c.138	CCDS3705.1	4																																																																																			0	pfam_UDP_glucos_trans		0.498	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	protein_coding	OTTHUMT00000256426.2	58	108	0	0.00	0	0	C	NM_003360	0	0		115544174	1	no_errors	ENST00000310836	ensembl	human	known	74_37	silent	40	140	9.09	6.67	4	10	SNP	0.547	T
SPATA5	166378	genome.wustl.edu	37	4	123949431	123949431	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:123949431A>G	ENST00000274008.4	+	11	2029	c.1960A>G	c.(1960-1962)Att>Gtt	p.I654V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	654					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGTCTTTCATTCGAATGGG	0.443																																							0											0													139.0	136.0	137.0					4																	123949431		2203	4300	6503	SO:0001583	missense	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1960A>G	4.37:g.123949431A>G	ENSP00000274008:p.Ile654Val		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.I654V	ENST00000274008.4	37	c.1960	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	A	9.984	1.229038	0.22542	.	.	ENSG00000145375	ENST00000274008	D	0.94687	-3.49	5.79	-1.05	0.10036	.	1.035350	0.07603	N	0.924037	D	0.84986	0.5594	N	0.10707	0.03	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.72769	-0.4193	10	0.31617	T	0.26	-31.6529	5.9501	0.19242	0.5156:0.2362:0.2482:0.0	.	654;654	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	V	654	ENSP00000274008:I654V	ENSP00000274008:I654V	I	+	1	0	SPATA5	124168881	0.070000	0.21116	0.011000	0.14972	0.938000	0.57974	1.240000	0.32731	-0.146000	0.11274	0.477000	0.44152	ATT	0	superfamily_P-loop_NTPase		0.443	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	protein_coding	OTTHUMT00000256714.2	97	215	0	0.00	0	0	A	NM_145207	0	0		123949431	1	no_errors	ENST00000274008	ensembl	human	known	74_37	missense	50	218	13.79	25.34	8	75	SNP	0.068	G
UCP1	7350	genome.wustl.edu	37	4	141484596	141484596	+	Silent	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:141484596T>C	ENST00000262999.3	-	3	477	c.402A>G	c.(400-402)acA>acG	p.T134T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	134					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TCACGACCTCTGTGGGTTGCC	0.453																																							0											0													129.0	112.0	118.0					4																	141484596		2203	4300	6503	SO:0001819	synonymous_variant	0			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.402A>G	4.37:g.141484596T>C			Q13218|Q4KMZ3|Q68G66	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.T134	ENST00000262999.3	37	c.402	CCDS3753.1	4																																																																																			0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.453	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP1	protein_coding	OTTHUMT00000257273.1	80	186	0	0.00	0	0	T		0	0		141484596	-1	no_errors	ENST00000262999	ensembl	human	known	74_37	silent	40	153	34.43	30.94	21	69	SNP	0.949	C
USP38	84640	genome.wustl.edu	37	4	144106796	144106796	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:144106796C>T	ENST00000307017.4	+	1	699	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	RP11-284M14.1_ENST00000507826.1_RNA|USP38_ENST00000510377.1_Silent_p.L65L|RP11-284M14.1_ENST00000507486.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	65					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCACCAGGTGCTGGAGGCCTA	0.622																																							0											0													73.0	58.0	63.0					4																	144106796		2203	4300	6503	SO:0001819	synonymous_variant	0			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.193C>T	4.37:g.144106796C>T			B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L65	ENST00000307017.4	37	c.193	CCDS3758.1	4																																																																																			0	NULL		0.622	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	protein_coding	OTTHUMT00000364869.1	9	101	0	0.00	0	0	C	NM_032557	0	0		144106796	1	no_errors	ENST00000307017	ensembl	human	known	74_37	silent	16	130	30.43	26.14	7	46	SNP	1	T
AC106860.1	0	genome.wustl.edu	37	4	161925046	161925046	+	RNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:161925046C>T	ENST00000408435.1	-	0	64																											tcagctcctgcgggctccatg	0.607																																							0											0																																												0																															4.37:g.161925046C>T				RNA	SNP	0	NULL	ENST00000408435.1	37	NULL		4																																																																																			0	0		0.607	AC106860.1-201	NOVEL	basic	miRNA	ENSG00000221362	miRNA		56	85	0	0.00	0	0	C		0	0		161925046	-1	no_errors	ENST00000408435	ensembl	human	novel	74_37	rna	49	61	31.94	34.04	23	32	SNP	0.055	T
TKTL2	84076	genome.wustl.edu	37	4	164393092	164393092	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:164393092G>A	ENST00000280605.3	-	1	1955	c.1795C>T	c.(1795-1797)Cgt>Tgt	p.R599C		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	599						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTTTCCCACGTTGAGGCACT	0.448																																							0											0													94.0	87.0	89.0					4																	164393092		2203	4300	6503	SO:0001583	missense	0			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1795C>T	4.37:g.164393092G>A	ENSP00000280605:p.Arg599Cys		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.R599C	ENST00000280605.3	37	c.1795	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755756	0.15846	.	.	ENSG00000151005	ENST00000280605	D	0.91068	-2.78	5.16	2.67	0.31697	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.198833	0.51477	D	0.000086	T	0.80549	0.4644	N	0.11427	0.14	0.29120	N	0.880311	B	0.09022	0.002	B	0.13407	0.009	T	0.73544	-0.3949	10	0.72032	D	0.01	-2.6917	10.881	0.46937	0.0:0.0:0.3063:0.6937	.	599	Q9H0I9	TKTL2_HUMAN	C	599	ENSP00000280605:R599C	ENSP00000280605:R599C	R	-	1	0	TKTL2	164612542	0.995000	0.38212	0.007000	0.13788	0.217000	0.24651	2.646000	0.46630	0.504000	0.28082	-0.275000	0.10095	CGT	0	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.448	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	protein_coding	OTTHUMT00000365207.1	50	227	0	0.00	0	0	G	NM_032136	0	0		164393092	-1	no_errors	ENST00000280605	ensembl	human	known	74_37	missense	25	158	21.21	34.30	7	83	SNP	0.806	A
TKTL2	84076	genome.wustl.edu	37	4	164393772	164393772	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:164393772T>C	ENST00000280605.3	-	1	1275	c.1115A>G	c.(1114-1116)aAc>aGc	p.N372S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	372						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTTACCATGTTTTGTTCAGC	0.443																																							0											0													101.0	100.0	100.0					4																	164393772		2203	4300	6503	SO:0001583	missense	0			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1115A>G	4.37:g.164393772T>C	ENSP00000280605:p.Asn372Ser		A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.N372S	ENST00000280605.3	37	c.1115	CCDS3805.1	4	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471767	0.63737	.	.	ENSG00000151005	ENST00000280605	T	0.44881	0.91	4.15	4.15	0.48705	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.71027	-0.4711	10	0.72032	D	0.01	-25.223	11.7822	0.52021	0.0:0.0:0.0:1.0	.	372	Q9H0I9	TKTL2_HUMAN	S	372	ENSP00000280605:N372S	ENSP00000280605:N372S	N	-	2	0	TKTL2	164613222	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.882000	0.69714	2.093000	0.63338	0.533000	0.62120	AAC	0	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.443	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	protein_coding	OTTHUMT00000365207.1	59	181	0	0.00	0	0	T	NM_032136	0	0		164393772	-1	no_errors	ENST00000280605	ensembl	human	known	74_37	missense	33	164	23.26	29.91	10	70	SNP	1	C
TLR3	7098	genome.wustl.edu	37	4	187000162	187000162	+	Silent	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:187000162T>C	ENST00000296795.3	+	3	714	c.610T>C	c.(610-612)Ttg>Ctg	p.L204L	TLR3_ENST00000504367.1_5'Flank	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	204					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AAAATTAGAGTTGTCATCGAA	0.323																																							0											0													27.0	30.0	29.0					4																	187000162		2197	4293	6490	SO:0001819	synonymous_variant	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.610T>C	4.37:g.187000162T>C			B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L204	ENST00000296795.3	37	c.610	CCDS3846.1	4																																																																																			0	smart_Leu-rich_rpt_typical-subtyp		0.323	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	protein_coding	OTTHUMT00000360313.4	131	279	0	0.00	0	0	T		0	0		187000162	1	no_errors	ENST00000296795	ensembl	human	known	74_37	silent	74	274	30.19	25.14	32	92	SNP	0.887	C
TLR3	7098	genome.wustl.edu	37	4	187005965	187005965	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:187005965C>T	ENST00000296795.3	+	5	2757	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	TLR3_ENST00000504367.1_Missense_Mutation_p.R608W	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	885	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCAGAAAGAACGGATAGGTGC	0.368																																							0											0													83.0	87.0	86.0					4																	187005965		2203	4300	6503	SO:0001583	missense	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2653C>T	4.37:g.187005965C>T	ENSP00000296795:p.Arg885Trp		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.R885W	ENST00000296795.3	37	c.2653	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265662	0.59431	.	.	ENSG00000164342	ENST00000296795;ENST00000504367	T;T	0.08634	3.07;3.07	5.84	4.98	0.66077	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.047036	0.85682	D	0.000000	T	0.33673	0.0871	M	0.86573	2.825	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.26916	-1.0089	10	0.72032	D	0.01	.	13.869	0.63605	0.393:0.607:0.0:0.0	.	885	O15455	TLR3_HUMAN	W	885;608	ENSP00000296795:R885W;ENSP00000423684:R608W	ENSP00000296795:R885W	R	+	1	2	TLR3	187242959	1.000000	0.71417	0.992000	0.48379	0.627000	0.37826	2.119000	0.41958	1.419000	0.47118	0.650000	0.86243	CGG	0	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom		0.368	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	protein_coding	OTTHUMT00000360313.4	158	205	0	0.00	0	0	C		0	0		187005965	1	no_errors	ENST00000296795	ensembl	human	known	74_37	missense	97	195	30.71	33.90	43	100	SNP	0.999	T
TPPP	11076	genome.wustl.edu	37	5	665302	665302	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:665302C>T	ENST00000360578.5	-	4	696	c.575G>A	c.(574-576)cGc>cAc	p.R192H	AC026740.1_ENST00000594226.1_5'Flank|CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	192					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CAGATCCACGCGGCCAGCCTT	0.647																																							0											0													80.0	70.0	74.0					5																	665302		2203	4300	6503	SO:0001583	missense	0			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.575G>A	5.37:g.665302C>T	ENSP00000353785:p.Arg192His			Missense_Mutation	SNP	pfam_P25-alpha	p.R192H	ENST00000360578.5	37	c.575	CCDS3856.1	5	.	.	.	.	.	.	.	.	.	.	c	27.0	4.794389	0.90453	.	.	ENSG00000171368	ENST00000360578	T	0.53206	0.63	5.12	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76258	-0.3025	10	0.87932	D	0	-24.5041	13.5105	0.61508	0.0:0.9233:0.0:0.0767	.	192	O94811	TPPP_HUMAN	H	192	ENSP00000353785:R192H	ENSP00000353785:R192H	R	-	2	0	TPPP	718302	1.000000	0.71417	0.955000	0.39395	0.911000	0.54048	5.428000	0.66489	1.160000	0.42584	0.561000	0.74099	CGC	0	pfam_P25-alpha		0.647	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP	protein_coding	OTTHUMT00000253645.3	44	68	0	0.00	0	0	C	NM_007030	0	0		665302	-1	no_errors	ENST00000360578	ensembl	human	known	74_37	missense	16	73	23.81	26.26	5	26	SNP	0.998	T
LPCAT1	79888	genome.wustl.edu	37	5	1477535	1477535	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:1477535G>A	ENST00000283415.3	-	9	1015	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	295					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATGACTCGCCGCACGTTGCTG	0.547																																							0											0													100.0	88.0	92.0					5																	1477535		2203	4300	6503	SO:0001583	missense	0			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.883C>T	5.37:g.1477535G>A	ENSP00000283415:p.Arg295Trp		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R295W	ENST00000283415.3	37	c.883	CCDS3864.1	5	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771446	0.69992	.	.	ENSG00000153395	ENST00000283415	D	0.93906	-3.31	4.93	-2.1	0.07210	.	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.93420	3.415	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.96903	0.9661	10	0.87932	D	0	-30.545	15.7009	0.77541	0.0:0.0:0.1827:0.8173	.	295	Q8NF37	PCAT1_HUMAN	W	295	ENSP00000283415:R295W	ENSP00000283415:R295W	R	-	1	2	LPCAT1	1530535	0.995000	0.38212	0.985000	0.45067	0.973000	0.67179	0.431000	0.21444	-0.266000	0.09339	0.561000	0.74099	CGG	0	NULL		0.547	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	protein_coding	OTTHUMT00000304032.1	47	135	0	0.00	0	0	G	NM_024830	0	0		1477535	-1	no_errors	ENST00000283415	ensembl	human	known	74_37	missense	20	87	16.67	27.50	4	33	SNP	0.998	A
SDHAP3	728609	genome.wustl.edu	37	5	1593265	1593265	+	lincRNA	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:1593265C>A	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							GGGCACATGCCTGACCAAAGA	0.552																																							0											0																																												0																															5.37:g.1593265C>A				RNA	SNP	0	NULL	ENST00000605200.1	37	NULL		5																																																																																			0	0		0.552	CTD-2012J19.3-001	KNOWN	basic	lincRNA	SDHAP3	lincRNA	OTTHUMT00000469651.1	92	81	0	0.00	0	0	C		0	0		1593265	-1	no_errors	ENST00000436493	ensembl	human	known	74_37	rna	59	78	28.92	37.60	24	47	SNP	0.996	A
CCT5	22948	genome.wustl.edu	37	5	10260992	10260992	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:10260992C>T	ENST00000280326.4	+	7	1382	c.962C>T	c.(961-963)gCg>gTg	p.A321V	CCT5_ENST00000503026.1_Missense_Mutation_p.A300V|CCT5_ENST00000506600.1_Missense_Mutation_p.A228V|CCT5_ENST00000515390.1_Missense_Mutation_p.A266V|CCT5_ENST00000515676.1_Missense_Mutation_p.A283V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	321					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AACTTGCCTGCGGTTCGCTGG	0.443																																							0											0													254.0	264.0	261.0					5																	10260992		2203	4300	6503	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.962C>T	5.37:g.10260992C>T	ENSP00000280326:p.Ala321Val		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.A321V	ENST00000280326.4	37	c.962	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.902972	0.97087	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.99;0.999;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	0.916;0.826;0.968;1.0;1.0;1.0	D	0.84763	0.0763	10	0.72032	D	0.01	-24.9023	19.0925	0.93233	0.0:1.0:0.0:0.0	.	228;266;170;319;321;321	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	V	321;300;266;294;283;228	ENSP00000280326:A321V;ENSP00000423318:A300V;ENSP00000426923:A266V;ENSP00000427297:A283V;ENSP00000423052:A228V	ENSP00000280326:A321V	A	+	2	0	CCT5	10313992	1.000000	0.71417	0.930000	0.37139	0.984000	0.73092	7.319000	0.79040	2.746000	0.94184	0.586000	0.80456	GCG	0	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi		0.443	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	protein_coding	OTTHUMT00000253688.2	76	180	0	0.00	0	0	C		0	0		10260992	1	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	42	126	26.32	32.98	15	62	SNP	1	T
MYO10	4651	genome.wustl.edu	37	5	16668465	16668465	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:16668465A>T	ENST00000513610.1	-	40	6450	c.5996T>A	c.(5995-5997)aTc>aAc	p.I1999N	MYO10_ENST00000274203.9_Missense_Mutation_p.I1356N|MYO10_ENST00000505695.1_Missense_Mutation_p.I1338N|MYO10_ENST00000427430.2_Missense_Mutation_p.I1356N|MYO10_ENST00000515803.1_Missense_Mutation_p.I1338N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1999	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AAAAGAGAGGATGTGTTCATA	0.542																																							0											0													126.0	130.0	128.0					5																	16668465		2054	4203	6257	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5996T>A	5.37:g.16668465A>T	ENSP00000421280:p.Ile1999Asn		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.I1999N	ENST00000513610.1	37	c.5996	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	A	27.7	4.852762	0.91355	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.93488	-3.02;-3.23;-3.15;-3.23;-3.15	5.14	5.14	0.70334	FERM domain (1);	.	.	.	.	D	0.96815	0.8960	M	0.84511	2.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.997	D	0.97546	1.0089	9	0.87932	D	0	.	14.9757	0.71269	1.0:0.0:0.0:0.0	.	878;1639;1999	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1999;1338;1356;1338;1356	ENSP00000421280:I1999N;ENSP00000425051:I1338N;ENSP00000274203:I1356N;ENSP00000421170:I1338N;ENSP00000391106:I1356N	ENSP00000274203:I1356N	I	-	2	0	MYO10	16721465	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.284000	0.95882	1.937000	0.56155	0.482000	0.46254	ATC	0	pfscan_FERM_domain		0.542	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	protein_coding	OTTHUMT00000366167.1	48	154	0	0.00	0	0	A	NM_012334	0	0		16668465	-1	no_errors	ENST00000513610	ensembl	human	known	74_37	missense	21	106	25	31.61	7	49	SNP	1	T
NIPBL	25836	genome.wustl.edu	37	5	36985729	36985729	+	Missense_Mutation	SNP	G	G	A	rs80358359	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:36985729G>A	ENST00000282516.8	+	10	2946	c.2447G>A	c.(2446-2448)cGt>cAt	p.R816H	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R816H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	816					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCACTAAGACGTGACCATGAT	0.438													G|||	2	0.000399361	0.0	0.0	5008	,	,		19796	0.0		0.001	False		,,,				2504	0.001						0.9996,0.0003994											0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	65.0	65.0	65.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2447,2447	6.0	1.0	5	dbSNP_132	65	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	NIPBL	NM_015384.4,NM_133433.3	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	816/2698,816/2805	36985729	2,13004	2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2447G>A	5.37:g.36985729G>A	ENSP00000282516:p.Arg816His		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R816H	ENST00000282516.8	37	c.2447	CCDS3920.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.10	3.549563	0.65311	0.0	2.33E-4	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93604	-3.25;-3.25	5.99	5.99	0.97316	.	0.145970	0.48767	D	0.000178	D	0.92522	0.7625	N	0.24115	0.695	0.45097	D	0.998114	D;D	0.63880	0.988;0.993	B;P	0.52823	0.379;0.71	D	0.92520	0.6024	10	0.51188	T	0.08	-8.948	20.4777	0.99188	0.0:0.0:1.0:0.0	.	816;816	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	H	816	ENSP00000282516:R816H;ENSP00000406266:R816H	ENSP00000282516:R816H	R	+	2	0	NIPBL	37021486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.706000	0.61845	2.840000	0.97914	0.655000	0.94253	CGT	0	NULL		0.438	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	29	193	0	0.00	0	0	G	NM_015384	rs80358359	G->A		36985729	1	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	22	149	37.84	27.67	14	57	SNP	1	A
EGFLAM	133584	genome.wustl.edu	37	5	38352386	38352386	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:38352386G>A	ENST00000354891.3	+	5	844	c.498G>A	c.(496-498)gcG>gcA	p.A166A	EGFLAM_ENST00000322350.5_Silent_p.A166A	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	166	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.A166A(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AACCTGGAGCGAGTGAAGGAA	0.532																																					Colon(62;485 1295 3347 17454)		0											2	Substitution - coding silent(2)	lung(2)											133.0	130.0	131.0					5																	38352386		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.498G>A	5.37:g.38352386G>A			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.A166	ENST00000354891.3	37	c.498	CCDS56363.1	5																																																																																			0	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	protein_coding	OTTHUMT00000367323.1	45	141	0	0.00	0	0	G	NM_152403	0	0		38352386	1	no_errors	ENST00000354891	ensembl	human	known	74_37	silent	28	177	15.15	5.35	5	10	SNP	0.994	A
HTR1A	3350	genome.wustl.edu	37	5	63257266	63257266	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:63257266G>A	ENST00000323865.3	-	1	514	c.281C>T	c.(280-282)gCg>gTg	p.A94V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	94					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTGATACAGCGCGGCCATGGG	0.587																																							0											0													52.0	53.0	52.0					5																	63257266		2203	4300	6503	SO:0001583	missense	0			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.281C>T	5.37:g.63257266G>A	ENSP00000316244:p.Ala94Val		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.A94V	ENST00000323865.3	37	c.281	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198806	0.79015	.	.	ENSG00000178394	ENST00000323865	T	0.36878	1.23	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.42378	-0.9455	10	0.02654	T	1	.	16.6418	0.85128	0.0:0.0:1.0:0.0	.	94	P08908	5HT1A_HUMAN	V	94	ENSP00000316244:A94V	ENSP00000316244:A94V	A	-	2	0	HTR1A	63293022	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.881000	0.87252	2.170000	0.68504	0.561000	0.74099	GCG	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	protein_coding	OTTHUMT00000368397.1	36	65	0	0.00	0	0	G	NM_000524	0	0		63257266	-1	no_errors	ENST00000323865	ensembl	human	known	74_37	missense	10	63	44.44	30.77	8	28	SNP	1	A
WDR41	55255	genome.wustl.edu	37	5	76745632	76745632	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:76745632C>T	ENST00000296679.4	-	8	1025	c.650G>A	c.(649-651)cGc>cAc	p.R217H	WDR41_ENST00000414719.2_Intron|WDR41_ENST00000507029.1_Missense_Mutation_p.R162H	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	217						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		ATCAAGGAGGCGCTTAACTTC	0.338																																							0											0													121.0	119.0	119.0					5																	76745632		2203	4300	6503	SO:0001583	missense	0			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.650G>A	5.37:g.76745632C>T	ENSP00000296679:p.Arg217His		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R217H	ENST00000296679.4	37	c.650	CCDS4038.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.065243|3.065243	0.55432|0.55432	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000511630|ENST00000296679;ENST00000507029	.|T;T	.|0.66460	.|-0.21;-0.21	6.01|6.01	4.23|4.23	0.50019|0.50019	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.234157	.|0.53938	.|N	.|0.000060	T|T	0.66046|0.66046	0.2750|0.2750	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D;B	.|0.69078	.|0.997;0.217	.|P;B	.|0.49332	.|0.607;0.044	T|T	0.64952|0.64952	-0.6286|-0.6286	5|10	.|0.46703	.|T	.|0.11	-5.7018|-5.7018	16.0003|16.0003	0.80288|0.80288	0.0:0.8783:0.0:0.1217|0.0:0.8783:0.0:0.1217	.|.	.|162;217	.|B4DT55;Q9HAD4	.|.;WDR41_HUMAN	T|H	43|217;162	.|ENSP00000296679:R217H;ENSP00000424287:R162H	.|ENSP00000296679:R217H	A|R	-|-	1|2	0|0	WDR41|WDR41	76781388|76781388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	2.904000|2.904000	0.48719|0.48719	0.453000|0.453000	0.26858|0.26858	-0.813000|-0.813000	0.03139|0.03139	GCC|CGC	0	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.338	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	protein_coding	OTTHUMT00000220014.2	100	234	0	0.00	0	0	C	NM_018268	0	0		76745632	-1	no_errors	ENST00000296679	ensembl	human	known	74_37	missense	53	215	25.35	23.76	18	67	SNP	1	T
MSH3	4437	genome.wustl.edu	37	5	80150076	80150076	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:80150076A>G	ENST00000265081.6	+	21	3021	c.2941A>G	c.(2941-2943)Acg>Gcg	p.T981A		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	981					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGGAAGAGGGACGAGCACTCA	0.378								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)		0											0													142.0	130.0	134.0					5																	80150076		2203	4300	6503	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2941A>G	5.37:g.80150076A>G	ENSP00000265081:p.Thr981Ala		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.T981A	ENST00000265081.6	37	c.2941	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506638	0.64410	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89270	-2.49	5.25	5.25	0.73442	DNA mismatch repair protein MutS, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	H	0.98155	4.16	0.48087	D	0.999584	D	0.89917	1.0	D	0.91635	0.999	D	0.98208	1.0471	9	.	.	.	-17.9904	15.1477	0.72671	1.0:0.0:0.0:0.0	.	981	P20585	MSH3_HUMAN	A	981;972	ENSP00000265081:T981A	.	T	+	1	0	MSH3	80185832	1.000000	0.71417	0.978000	0.43139	0.272000	0.26649	9.339000	0.96797	1.986000	0.57962	0.533000	0.62120	ACG	0	pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C		0.378	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	41	203	0	0.00	0	0	A	NM_002439	0	0		80150076	1	no_errors	ENST00000265081	ensembl	human	known	74_37	missense	28	161	37.78	21.84	17	45	SNP	1	G
GPR98	84059	genome.wustl.edu	37	5	89949478	89949478	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:89949478C>T	ENST00000405460.2	+	20	4183	c.4087C>T	c.(4087-4089)Ccc>Tcc	p.P1363S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1363					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGTAATGCCCAATGCCAA	0.418																																							0											0													106.0	97.0	100.0					5																	89949478		1920	4133	6053	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4087C>T	5.37:g.89949478C>T	ENSP00000384582:p.Pro1363Ser		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.P1363S	ENST00000405460.2	37	c.4087	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.885362|4.885362	0.91814|0.91814	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.76709	.|-1.04	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88437|0.88437	0.6436|0.6436	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.89024|0.89024	0.3437|0.3437	5|10	.|0.72032	.|D	.|0.01	.|.	19.4938|19.4938	0.95064|0.95064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1363	.|Q8WXG9	.|GPR98_HUMAN	V|S	951|1363	.|ENSP00000384582:P1363S	.|ENSP00000296619:P1363S	A|P	+|+	2|1	0|0	GPR98|GPR98	89985234|89985234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.508000|7.508000	0.81686|0.81686	2.691000|2.691000	0.91804|0.91804	0.650000|0.650000	0.86243|0.86243	GCC|CCC	0	superfamily_ConA-like_lec_gl_sf		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	29	287	0	0.35	0	1	C	NM_032119	0	0		89949478	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	25	336	29.73	28.36	11	133	SNP	1	T
GPR98	84059	genome.wustl.edu	37	5	90050860	90050860	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:90050860C>T	ENST00000405460.2	+	55	11534	c.11438C>T	c.(11437-11439)gCc>gTc	p.A3813V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3813	Calx-beta 25. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGGATATTGCCATTCACTTG	0.358																																							0											0													144.0	142.0	143.0					5																	90050860		1888	4098	5986	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11438C>T	5.37:g.90050860C>T	ENSP00000384582:p.Ala3813Val		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A3813V	ENST00000405460.2	37	c.11438	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.22|10.22	1.290824|1.290824	0.23564|0.23564	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.34472|.	1.36|.	5.73|5.73	3.94|3.94	0.45596|0.45596	.|.	0.621206|.	0.18547|.	N|.	0.138004|.	T|T	0.42653|0.42653	0.1212|0.1212	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	B;B|.	0.12630|.	0.006;0.005|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.23013|0.23013	-1.0200|-1.0200	10|5	0.42905|.	T|.	0.14|.	.|.	6.7581|6.7581	0.23526|0.23526	0.0:0.6985:0.1469:0.1546|0.0:0.6985:0.1469:0.1546	.|.	3813;3813|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	V|S	3813|1379	ENSP00000384582:A3813V|.	ENSP00000296619:A3813V|.	A|P	+|+	2|1	0|0	GPR98|GPR98	90086616|90086616	0.163000|0.163000	0.22920|0.22920	1.000000|1.000000	0.80357|0.80357	0.195000|0.195000	0.23768|0.23768	0.574000|0.574000	0.23714|0.23714	1.431000|1.431000	0.47355|0.47355	0.655000|0.655000	0.94253|0.94253	GCC|CCA	0	NULL		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	55	263	0	0.38	0	1	C	NM_032119	0	0		90050860	1	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	26	226	40.91	32.64	18	110	SNP	0.974	T
KIAA0825	285600	genome.wustl.edu	37	5	93820572	93820572	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:93820572A>G	ENST00000513200.3	-	5	1106	c.1034T>C	c.(1033-1035)tTa>tCa	p.L345S	KIAA0825_ENST00000312498.7_Missense_Mutation_p.L345S|KIAA0825_ENST00000427991.2_Missense_Mutation_p.L345S	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	345										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GAGCTGCGATAAGAATTCGAC	0.348																																							0											0													89.0	76.0	80.0					5																	93820572		692	1588	2280	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.1034T>C	5.37:g.93820572A>G	ENSP00000424618:p.Leu345Ser		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.L345S	ENST00000513200.3	37	c.1034		5	.	.	.	.	.	.	.	.	.	.	A	13.13	2.146672	0.37923	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.66638	-0.2;-0.2;-0.22	5.07	3.88	0.44766	.	.	.	.	.	T	0.77287	0.4108	M	0.62723	1.935	0.28916	N	0.892391	D	0.76494	0.999	D	0.70016	0.967	T	0.70353	-0.4895	9	0.87932	D	0	.	10.1492	0.42782	0.851:0.0:0.0:0.149	.	345	Q8IV33	K0825_HUMAN	S	345	ENSP00000424618:L345S;ENSP00000400288:L345S;ENSP00000312205:L345S	ENSP00000312205:L345S	L	-	2	0	KIAA0825	93846328	1.000000	0.71417	0.488000	0.27440	0.175000	0.22909	5.564000	0.67359	0.844000	0.35094	0.383000	0.25322	TTA	0	NULL		0.348	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	protein_coding	OTTHUMT00000254102.5	112	273	0.88	0.00	1	0	A	NM_173665	0	0		93820572	-1	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	78	236	27.78	24.36	30	76	SNP	0.983	G
ANKRD32	84250	genome.wustl.edu	37	5	93990395	93990395	+	Missense_Mutation	SNP	A	A	G	rs190144448	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:93990395A>G	ENST00000265140.5	+	9	1512	c.1093A>G	c.(1093-1095)Aag>Gag	p.K365E		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	365						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATGGCTATTAAGACAGATGT	0.299																																							0											0													99.0	90.0	93.0					5																	93990395		692	1586	2278	SO:0001583	missense	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1093A>G	5.37:g.93990395A>G	ENSP00000265140:p.Lys365Glu		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K365E	ENST00000265140.5	37	c.1093	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	A	8.083	0.772892	0.16051	.	.	ENSG00000133302	ENST00000265140	T	0.49720	0.77	5.34	0.121	0.14695	.	0.608745	0.14672	N	0.305275	T	0.30696	0.0773	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.33940	T	0.23	.	4.277	0.10813	0.4971:0.2225:0.2804:0.0	.	365	Q9BQI6	ANR32_HUMAN	E	365	ENSP00000265140:K365E	ENSP00000265140:K365E	K	+	1	0	ANKRD32	94016151	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.152000	0.16302	0.059000	0.16252	-0.256000	0.11100	AAG	0	NULL		0.299	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	protein_coding	OTTHUMT00000241610.1	137	224	0	0.00	0	0	A	NM_032290	0	0		93990395	1	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	85	176	25.44	26.97	29	65	SNP	0	G
REEP5	7905	genome.wustl.edu	37	5	112257874	112257874	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:112257874A>G	ENST00000379638.4	-	1	362	c.14T>C	c.(13-15)aTg>aCg	p.M5T	REEP5_ENST00000513339.1_Missense_Mutation_p.M5T|REEP5_ENST00000474542.2_5'Flank|REEP5_ENST00000545426.1_Missense_Mutation_p.M5T|REEP5_ENST00000504247.1_Missense_Mutation_p.M5T	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	5						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CCTCTCCCTCATGGCCGCAGA	0.652																																							0											0													50.0	45.0	47.0					5																	112257874		2202	4300	6502	SO:0001583	missense	0			BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.14T>C	5.37:g.112257874A>G	ENSP00000368959:p.Met5Thr		B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.M5T	ENST00000379638.4	37	c.14	CCDS4109.2	5	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198270	0.38806	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000504247	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.17	1.7	0.24286	.	0.288739	0.34507	N	0.003917	T	0.30885	0.0779	L	0.28274	0.84	0.32607	N	0.525084	B;B	0.14438	0.01;0.0	B;B	0.15052	0.012;0.002	T	0.20940	-1.0260	10	0.42905	T	0.14	-30.5748	8.0683	0.30674	0.8253:0.0:0.1747:0.0	.	5;5	B7Z510;Q00765	.;REEP5_HUMAN	T	5	ENSP00000368959:M5T;ENSP00000425901:M5T;ENSP00000442940:M5T;ENSP00000421881:M5T	ENSP00000368959:M5T	M	-	2	0	REEP5	112285773	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	4.698000	0.61789	0.059000	0.16252	-0.371000	0.07208	ATG	0	NULL		0.652	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP5	protein_coding	OTTHUMT00000250739.2	49	111	0	0.00	0	0	A	NM_005669	0	0		112257874	-1	no_errors	ENST00000379638	ensembl	human	known	74_37	missense	46	65	22.03	35.64	13	36	SNP	1	G
DMXL1	1657	genome.wustl.edu	37	5	118506653	118506653	+	Missense_Mutation	SNP	G	G	A	rs373434175		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:118506653G>A	ENST00000311085.8	+	24	6247	c.6167G>A	c.(6166-6168)cGt>cAt	p.R2056H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R2056H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAAAATTGCGTTACCAACTA	0.378																																							0											0								G	HIS/ARG	0,4404		0,0,2202	81.0	82.0	81.0		6167	5.5	1.0	5		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	DMXL1	NM_005509.4	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2056/3028	118506653	1,13003	2202	4300	6502	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6167G>A	5.37:g.118506653G>A	ENSP00000309690:p.Arg2056His			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2056H	ENST00000311085.8	37	c.6167	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538942	0.85917	0.0	1.16E-4	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.79845	-1.31;-1.31	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.91449	0.7301	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.92519	0.6023	10	0.87932	D	0	-15.3131	19.3932	0.94594	0.0:0.0:1.0:0.0	.	2056;2056	F5H269;Q9Y485	.;DMXL1_HUMAN	H	2056	ENSP00000309690:R2056H;ENSP00000439479:R2056H	ENSP00000309690:R2056H	R	+	2	0	DMXL1	118534552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.577000	0.86979	0.557000	0.71058	CGT	0	NULL		0.378	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	protein_coding	OTTHUMT00000250862.1	101	250	0	0.00	0	0	G	NM_005509	rs373434175	G->A		118506653	1	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	48	222	31.43	27.21	22	83	SNP	1	A
TRPC7	57113	genome.wustl.edu	37	5	135692352	135692352	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:135692352C>T	ENST00000513104.1	-	2	1006	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A242T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A242T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	242					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTCCAGGGCGGTGAGGACA	0.572																																							0											0													45.0	49.0	48.0					5																	135692352		2114	4241	6355	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.724G>A	5.37:g.135692352C>T	ENSP00000426070:p.Ala242Thr		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.A242T	ENST00000513104.1	37	c.724	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.052196|5.052196	0.93793|0.93793	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.88277|.	-2.36;-2.36;-2.36|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Transient receptor potential II (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76343|0.76343	0.3974|0.3974	M|M	0.73319|0.73319	2.225|2.225	0.47245|0.47245	D|D	0.999363|0.999363	D;D;D;D|.	0.89917|.	0.999;1.0;0.998;0.999|.	D;D;D;D|.	0.80764|.	0.994;0.916;0.95;0.966|.	T|T	0.74708|0.74708	-0.3574|-0.3574	10|5	0.87932|.	D|.	0|.	-15.3855|-15.3855	19.3333|19.3333	0.94303|0.94303	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	242;242;242;242|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|H	242|241	ENSP00000347312:A242T;ENSP00000441628:A242T;ENSP00000426070:A242T|.	ENSP00000265193:A242T|.	A|R	-|-	1|2	0|0	TRPC7|TRPC7	135720251|135720251	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.988000|0.988000	0.76386|0.76386	7.651000|7.651000	0.83577|0.83577	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CGC	0	pfam_TRP_dom,tigrfam_TRP_channel		0.572	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	protein_coding	OTTHUMT00000366975.1	20	159	0	0.00	0	0	C	NM_020389	0	0		135692352	-1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	10	108	37.5	25.52	6	37	SNP	1	T
HARS2	23438	genome.wustl.edu	37	5	140075194	140075194	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140075194C>T	ENST00000230771.3	+	5	724	c.501C>T	c.(499-501)ggC>ggT	p.G167G	HARS2_ENST00000432671.2_Intron|HARS2_ENST00000435019.2_Silent_p.G127G|HARS2_ENST00000508522.1_Silent_p.G142G|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000437649.2_Intron	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	167					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTCCAAGGCCGTTATAGGG	0.488																																							0											0													142.0	138.0	139.0					5																	140075194		2203	4300	6503	SO:0001819	synonymous_variant	0			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.501C>T	5.37:g.140075194C>T			B4DDY8	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase	p.G167	ENST00000230771.3	37	c.501	CCDS4238.1	5																																																																																			0	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase		0.488	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS2	protein_coding	OTTHUMT00000251670.2	105	237	0	0.00	0	0	C	NM_012208	0	0		140075194	1	no_errors	ENST00000230771	ensembl	human	known	74_37	silent	59	191	26.25	27.44	21	73	SNP	0.959	T
PCDHA12	56137	genome.wustl.edu	37	5	140256944	140256944	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140256944C>T	ENST00000398631.2	+	1	1887	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACTGGCGAGATCAGCA	0.677																																					Pancreas(113;759 1672 13322 24104 50104)		0											0													241.0	214.0	223.0					5																	140256944		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1887C>T	5.37:g.140256944C>T			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G629	ENST00000398631.2	37	c.1887	CCDS47285.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	protein_coding	OTTHUMT00000372882.2	110	48	0	0.00	0	0	C	NM_018903	0	0		140256944	1	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	88	53	25.42	19.70	30	13	SNP	0.986	T
PCDHB6	56130	genome.wustl.edu	37	5	140531055	140531055	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140531055C>T	ENST00000231136.1	+	1	1217	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A270V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAAGGCGCGCTGGACAGA	0.483																																							0											0													112.0	114.0	114.0					5																	140531055		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1217C>T	5.37:g.140531055C>T	ENSP00000231136:p.Ala406Val		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A406V	ENST00000231136.1	37	c.1217	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	8.566	0.878808	0.17395	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.02656	4.21;4.21	4.59	3.69	0.42338	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	L	0.51422	1.61	0.09310	N	1	P	0.44946	0.846	B	0.43658	0.426	T	0.35992	-0.9766	9	0.62326	D	0.03	.	7.6785	0.28499	0.1741:0.7427:0.0:0.0832	.	406	Q9Y5E3	PCDB6_HUMAN	V	270;406;191	ENSP00000438466:A270V;ENSP00000231136:A406V	ENSP00000231136:A406V	A	+	2	0	PCDHB6	140511239	0.000000	0.05858	0.013000	0.15412	0.017000	0.09413	-0.234000	0.09028	0.992000	0.38840	0.561000	0.74099	GCG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	88	91	0	0.00	0	0	C	NM_018939	0	0		140531055	1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	55	86	35.29	35.82	30	48	SNP	0.024	T
PCDHGA1	56114	genome.wustl.edu	37	5	140712134	140712134	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140712134C>T	ENST00000517417.1	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T628M	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697																																							0											0													25.0	30.0	28.0					5																	140712134		2186	4269	6455	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1883C>T	5.37:g.140712134C>T	ENSP00000431083:p.Thr628Met		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T628M	ENST00000517417.1	37	c.1883	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317290	0.81469	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.56941	0.43;0.43	3.92	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.000000	0.50627	D	0.000106	T	0.79275	0.4418	H	0.95504	3.68	0.38162	D	0.93906	D;D	0.89917	1.0;0.998	D;D	0.68353	0.928;0.957	D	0.87625	0.2512	10	0.72032	D	0.01	.	15.2915	0.73870	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	M	628	ENSP00000431083:T628M;ENSP00000367345:T628M	ENSP00000367345:T628M	T	+	2	0	PCDHGA1	140692318	0.960000	0.32886	0.930000	0.37139	0.971000	0.66376	2.886000	0.48578	2.204000	0.70986	0.580000	0.79431	ACG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	protein_coding	OTTHUMT00000374737.1	29	4	0	0.00	0	0	C	NM_018912	0	0		140712134	1	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	31	1	26.19	66.67	11	2	SNP	0.999	T
PCDHGA8	9708	genome.wustl.edu	37	5	140774369	140774369	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140774369C>T	ENST00000398604.2	+	1	1989	c.1989C>T	c.(1987-1989)gcC>gcT	p.A663A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTAGCCGTGGCTGACA	0.632																																							0											0													41.0	48.0	46.0					5																	140774369		2202	4300	6502	SO:0001819	synonymous_variant	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1989C>T	5.37:g.140774369C>T			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A663	ENST00000398604.2	37	c.1989	CCDS47291.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.632	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	protein_coding	OTTHUMT00000376972.1	49	52	0	0.00	0	0	C	NM_032088	0	0		140774369	1	no_errors	ENST00000398604	ensembl	human	known	74_37	silent	35	43	26.53	20.37	13	11	SNP	0.007	T
ABLIM3	22885	genome.wustl.edu	37	5	148627364	148627364	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:148627364G>A	ENST00000506113.1	+	17	2053	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R413Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R429Q|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R10Q|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R524Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R413Q|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R491Q|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	524					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.R524L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATTGGCCGGCTGATTCTG	0.572																																							0											1	Substitution - Missense(1)	lung(1)											44.0	47.0	46.0					5																	148627364		2203	4300	6503	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1571G>A	5.37:g.148627364G>A	ENSP00000425394:p.Arg524Gln		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R524Q	ENST00000506113.1	37	c.1571	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492042	0.64074	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	N	0.16266	0.395	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.984;0.982;0.913	T	0.11348	-1.0591	10	0.06625	T	0.88	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	10;429;413;524	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	429;413;524;524;413;491;10;9	ENSP00000315841:R429Q;ENSP00000348938:R413Q;ENSP00000310309:R524Q;ENSP00000425394:R524Q;ENSP00000421183:R413Q;ENSP00000420855:R491Q;ENSP00000430150:R10Q	ENSP00000310309:R524Q	R	+	2	0	ABLIM3	148607557	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.758000	0.91663	2.651000	0.90000	0.561000	0.74099	CGG	0	NULL		0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	protein_coding	OTTHUMT00000373435.1	44	248	2.22	0.00	1	0	G	NM_014945	0	0		148627364	1	no_errors	ENST00000309868	ensembl	human	known	74_37	missense	21	166	25	22.43	7	48	SNP	1	A
ABLIM3	22885	genome.wustl.edu	37	5	148627430	148627430	+	Missense_Mutation	SNP	G	G	A	rs138587496		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:148627430G>A	ENST00000506113.1	+	17	2119	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R435Q|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R451Q|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R32Q|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R546Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R435Q|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R513Q|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	546					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCTCCCCGGAGCTCCACC	0.612																																							0.9998,.,0.0001997											0								G	GLN/ARG	0,4406		0,0,2203	30.0	33.0	32.0		1637	5.6	1.0	5	dbSNP_134	32	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ABLIM3	NM_014945.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	546/684	148627430	2,13004	2203	4300	6503	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1637G>A	5.37:g.148627430G>A	ENSP00000425394:p.Arg546Gln		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R546Q	ENST00000506113.1	37	c.1637	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903044	0.72754	0.0	2.33E-4	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.43923	1.385	0.47698	D	0.999492	D;D;D;D	0.76494	0.997;0.999;0.999;0.998	P;D;D;P	0.74023	0.726;0.982;0.975;0.621	T	0.55661	-0.8106	10	0.46703	T	0.11	.	19.6415	0.95760	0.0:0.0:1.0:0.0	.	32;451;435;546	O94929-4;O94929-3;O94929-2;O94929	.;.;.;ABLM3_HUMAN	Q	451;435;546;546;435;513;32;31	ENSP00000315841:R451Q;ENSP00000348938:R435Q;ENSP00000310309:R546Q;ENSP00000425394:R546Q;ENSP00000421183:R435Q;ENSP00000420855:R513Q;ENSP00000430150:R32Q	ENSP00000310309:R546Q	R	+	2	0	ABLIM3	148607623	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.758000	0.91663	2.651000	0.90000	0.561000	0.74099	CGG	0	NULL		0.612	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	protein_coding	OTTHUMT00000373435.1	36	175	0	0.57	0	1	G	NM_014945	rs138587496	G->A,C		148627430	1	no_errors	ENST00000309868	ensembl	human	known	74_37	missense	24	134	13.79	25.56	4	46	SNP	1	A
TCOF1	6949	genome.wustl.edu	37	5	149756011	149756011	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:149756011A>G	ENST00000504761.2	+	14	2168	c.2168A>G	c.(2167-2169)cAg>cGg	p.Q723R	TCOF1_ENST00000323668.7_Missense_Mutation_p.Q646R|TCOF1_ENST00000439160.2_Missense_Mutation_p.Q723R|TCOF1_ENST00000394269.3_Missense_Mutation_p.Q723R|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q646R|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q723R|TCOF1_ENST00000377797.3_Missense_Mutation_p.Q723R|TCOF1_ENST00000451292.1_Missense_Mutation_p.Q723R			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	723					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGGCCTCCAGGTGAAAGCA	0.622																																							0											0													48.0	51.0	50.0					5																	149756011		2203	4300	6503	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2168A>G	5.37:g.149756011A>G	ENSP00000421655:p.Gln723Arg		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.Q723R	ENST00000504761.2	37	c.2168	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854525	0.32791	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.37	0.699	0.18093	Treacher Collins syndrome, treacle (1);	0.415534	0.17778	N	0.162321	T	0.55577	0.1929	M	0.63843	1.955	0.09310	N	1	B;B;B;B;B;B;B	0.26258	0.124;0.102;0.102;0.102;0.145;0.102;0.102	B;B;B;B;B;B;B	0.30105	0.037;0.022;0.033;0.022;0.111;0.033;0.022	T	0.54925	-0.8220	10	0.72032	D	0.01	-1.8217	7.0402	0.25015	0.5649:0.3297:0.1054:0.0	.	232;723;646;723;723;646;723	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	R	723;723;646;646;723;723;723;723;723	ENSP00000400939:Q723R;ENSP00000367028:Q723R;ENSP00000409944:Q646R;ENSP00000325223:Q646R;ENSP00000406888:Q723R;ENSP00000377811:Q723R;ENSP00000390717:Q723R;ENSP00000421655:Q723R;ENSP00000427484:Q723R	ENSP00000325223:Q646R	Q	+	2	0	TCOF1	149736204	0.000000	0.05858	0.008000	0.14137	0.466000	0.32739	-0.021000	0.12504	0.559000	0.29153	0.459000	0.35465	CAG	0	pfam_TCS_treacle		0.622	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	42	117	2.33	0.00	1	0	A	NM_001008656	0	0		149756011	1	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	30	119	14.29	25.16	5	40	SNP	0.005	G
TENM2	57451	genome.wustl.edu	37	5	167551991	167551991	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:167551991G>A	ENST00000518659.1	+	11	2184	c.2145G>A	c.(2143-2145)acG>acA	p.T715T	TENM2_ENST00000520394.1_Silent_p.T483T|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.T548T|TENM2_ENST00000519204.1_Silent_p.T594T|TENM2_ENST00000545108.1_Silent_p.T715T	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	715	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGCATGGCACGTACCTGCCTG	0.597																																							0											0													48.0	53.0	51.0					5																	167551991		2124	4224	6348	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2145G>A	5.37:g.167551991G>A			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T715	ENST00000518659.1	37	c.2145		5																																																																																			0	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.597	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	30	87	0	0.00	0	0	G	NM_001122679	0	0		167551991	1	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	25	47	19.35	33.80	6	24	SNP	0.001	A
DOCK2	1794	genome.wustl.edu	37	5	169188602	169188602	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:169188602G>A	ENST00000256935.8	+	25	2607	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I	DOCK2_ENST00000520908.1_Missense_Mutation_p.V335I|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	843					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.V843F(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATGAGATAGTCCAGAGCAA	0.488																																							0											1	Substitution - Missense(1)	lung(1)											148.0	144.0	146.0					5																	169188602		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2527G>A	5.37:g.169188602G>A	ENSP00000256935:p.Val843Ile		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.V843I	ENST00000256935.8	37	c.2527	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	30	5.056920	0.93846	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.69806	-0.43;-0.43;-0.43	5.51	5.51	0.81932	.	0.056845	0.64402	D	0.000001	T	0.68632	0.3022	M	0.62154	1.92	0.80722	D	1	P;P	0.48089	0.47;0.905	B;B	0.43680	0.095;0.427	T	0.70447	-0.4869	10	0.44086	T	0.13	.	18.5542	0.91077	0.0:0.0:1.0:0.0	.	335;843	E7ERW7;Q92608	.;DOCK2_HUMAN	I	843;224;335;47	ENSP00000256935:V843I;ENSP00000429283:V335I;ENSP00000428841:V47I	ENSP00000256935:V843I	V	+	1	0	DOCK2	169121180	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.836000	0.92105	2.755000	0.94549	0.650000	0.86243	GTC	0	superfamily_ARM-type_fold		0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	28	163	0	0.00	0	0	G	NM_004946	0	0		169188602	1	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	22	110	31.25	25.00	10	37	SNP	1	A
EIF4E1B	253314	genome.wustl.edu	37	5	176073052	176073052	+	3'UTR	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:176073052C>T	ENST00000318682.6	+	0	1384				TSPAN17_ENST00000298564.10_5'Flank|TSPAN17_ENST00000508164.1_5'Flank|TSPAN17_ENST00000515708.1_5'Flank|EIF4E1B_ENST00000512734.1_3'UTR|TSPAN17_ENST00000405525.2_5'Flank|TSPAN17_ENST00000503045.1_5'Flank|EIF4E1B_ENST00000504597.1_3'UTR|TSPAN17_ENST00000310032.8_5'Flank	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B						regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGATGGGGCGGGACTGGGG	0.547																																							0											0																																										SO:0001624	3_prime_UTR_variant	0				CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.*71C>T	5.37:g.176073052C>T				RNA	SNP	0	NULL	ENST00000318682.6	37	NULL	CCDS47345.1	5																																																																																			0	0		0.547	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E1B	protein_coding	OTTHUMT00000372187.1	24	152	0	0.00	0	0	C	NM_001099408	0	0		176073052	1	no_errors	ENST00000512734	ensembl	human	known	74_37	rna	14	108	33.33	26.03	7	38	SNP	0	T
FLT4	2324	genome.wustl.edu	37	5	180055995	180055995	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:180055995A>T	ENST00000261937.6	-	8	1068	c.990T>A	c.(988-990)aaT>aaA	p.N330K	FLT4_ENST00000502649.1_Missense_Mutation_p.N330K|FLT4_ENST00000393347.3_Missense_Mutation_p.N330K|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	330					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATGAAGGGATTTTCTGCCG	0.652																																					Colon(97;1075 1466 27033 27547 35871)		0											0													46.0	46.0	46.0					5																	180055995		2202	4295	6497	SO:0001583	missense	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.990T>A	5.37:g.180055995A>T	ENSP00000261937:p.Asn330Lys		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.N330K	ENST00000261937.6	37	c.990	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	A	1.880	-0.458198	0.04508	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.24908	1.83;1.83;1.83	4.82	0.694	0.18062	Immunoglobulin-like fold (1);	.	.	.	.	T	0.03263	0.0095	N	0.00043	-2.47	0.23984	N	0.996269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41088	-0.9528	9	0.02654	T	1	.	5.1316	0.14913	0.1341:0.5462:0.0:0.3197	.	330;330;330	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	K	330;330;330;140	ENSP00000261937:N330K;ENSP00000377016:N330K;ENSP00000426057:N330K	ENSP00000261937:N330K	N	-	3	2	FLT4	179988601	0.999000	0.42202	1.000000	0.80357	0.809000	0.45718	0.690000	0.25451	0.137000	0.18759	-0.233000	0.12211	AAT	0	NULL		0.652	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	95	129	0	0.00	0	0	A		0	0		180055995	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	47	87	25.4	23.01	16	26	SNP	1	T
EXOC2	55770	genome.wustl.edu	37	6	564069	564069	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:564069G>A	ENST00000230449.4	-	16	1888	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	EXOC2_ENST00000448181.3_Missense_Mutation_p.R180C	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	585					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R585C(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ATTACGCAACGTACTCGGAGA	0.463																																							0											1	Substitution - Missense(1)	endometrium(1)											142.0	119.0	127.0					6																	564069		2203	4300	6503	SO:0001583	missense	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1753C>T	6.37:g.564069G>A	ENSP00000230449:p.Arg585Cys		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.R585C	ENST00000230449.4	37	c.1753	CCDS34327.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.123235	0.94429	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.24908	1.83;1.83	5.73	5.73	0.89815	.	0.095824	0.64402	D	0.000001	T	0.26231	0.0640	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	P	0.46144	0.505	T	0.04128	-1.0975	10	0.66056	D	0.02	-7.2372	19.8916	0.96931	0.0:0.0:1.0:0.0	.	585	Q96KP1	EXOC2_HUMAN	C	585;180	ENSP00000230449:R585C;ENSP00000398113:R180C	ENSP00000230449:R585C	R	-	1	0	EXOC2	509069	1.000000	0.71417	0.818000	0.32626	0.948000	0.59901	9.185000	0.94900	2.717000	0.92951	0.585000	0.79938	CGT	0	NULL		0.463	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	protein_coding	OTTHUMT00000039627.1	68	179	0	0.00	0	0	G	NM_018303	0	0		564069	-1	no_errors	ENST00000230449	ensembl	human	known	74_37	missense	31	152	21.43	32.60	9	74	SNP	1	A
HIVEP1	3096	genome.wustl.edu	37	6	12122183	12122183	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:12122183C>T	ENST00000379388.2	+	4	2487	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	719					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACGTCAACACCCTCTGCTTT	0.522																																							0											0													63.0	63.0	63.0					6																	12122183		2082	4199	6281	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2155C>T	6.37:g.12122183C>T	ENSP00000368698:p.Pro719Ser		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P719S	ENST00000379388.2	37	c.2155	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279306	0.23307	.	.	ENSG00000095951	ENST00000379388	T	0.10573	2.86	5.92	2.17	0.27698	.	0.227066	0.22834	N	0.055072	T	0.02533	0.0077	L	0.50333	1.59	0.23739	N	0.996979	B	0.24721	0.11	B	0.16722	0.016	T	0.43196	-0.9406	9	.	.	.	-7.662	3.5094	0.07703	0.2058:0.4599:0.2122:0.122	.	719	P15822	ZEP1_HUMAN	S	719	ENSP00000368698:P719S	.	P	+	1	0	HIVEP1	12230169	0.006000	0.16342	0.156000	0.22583	0.013000	0.08279	0.367000	0.20382	0.425000	0.26087	0.655000	0.94253	CCC	0	NULL		0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	protein_coding	OTTHUMT00000039870.2	42	161	0	0.00	0	0	C	NM_002114	0	0		12122183	1	no_errors	ENST00000379388	ensembl	human	known	74_37	missense	22	146	26.67	29.81	8	62	SNP	0.109	T
ALDH5A1	7915	genome.wustl.edu	37	6	24503567	24503567	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:24503567G>A	ENST00000357578.3	+	3	660	c.515G>A	c.(514-516)cGc>cAc	p.R172H	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144H|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172H|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84H	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	172					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GAGGAAGCCCGCCGTGTTTAC	0.537																																							0											0													44.0	44.0	44.0					6																	24503567		2203	4300	6503	SO:0001583	missense	0			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.515G>A	6.37:g.24503567G>A	ENSP00000350191:p.Arg172His		B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.R172H	ENST00000357578.3	37	c.515	CCDS4555.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965949	0.92855	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86130	0.5859	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.984	D	0.86952	0.2086	10	0.87932	D	0	.	18.9912	0.92793	0.0:0.0:1.0:0.0	.	172;172	P51649;G5E949	SSDH_HUMAN;.	H	172;84;144;172	ENSP00000350191:R172H;ENSP00000438193:R84H;ENSP00000417687:R144H;ENSP00000314649:R172H	ENSP00000314649:R172H	R	+	2	0	ALDH5A1	24611546	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.360000	0.97119	2.708000	0.92522	0.650000	0.86243	CGC	0	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH		0.537	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	protein_coding	OTTHUMT00000040007.2	19	201	0	0.00	0	0	G		0	0		24503567	1	no_errors	ENST00000348925	ensembl	human	known	74_37	missense	12	151	20	28.44	3	60	SNP	1	A
OR11A1	26531	genome.wustl.edu	37	6	29394998	29394998	+	Missense_Mutation	SNP	G	G	A	rs138146725		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:29394998G>A	ENST00000377149.1	-	5	893	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	OR11A1_ENST00000377148.1_Missense_Mutation_p.R141W|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.R141W			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CCCATGTACCGTCTGGGCCCC	0.577																																							0											0								G	TRP/ARG	0,3010		0,0,1505	73.0	81.0	78.0		421	-2.2	0.0	6	dbSNP_134	78	1,5413		0,1,2706	no	missense	OR11A1	NM_013937.2	101	0,1,4211	AA,AG,GG		0.0185,0.0,0.0119	benign	141/316	29394998	1,8423	1505	2707	4212	SO:0001583	missense	0				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.421C>T	6.37:g.29394998G>A	ENSP00000366354:p.Arg141Trp		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R141W	ENST00000377149.1	37	c.421	CCDS34363.1	6	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649330	0.03506	0.0	1.85E-4	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.41065	1.01;1.01;1.01	3.78	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	3.472800	0.01655	N	0.024795	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23013	-1.0200	10	0.52906	T	0.07	0.6654	4.6244	0.12470	0.2909:0.3594:0.3497:0.0	.	141	Q9GZK7	O11A1_HUMAN	W	141	ENSP00000366353:R141W;ENSP00000366354:R141W;ENSP00000366352:R141W	ENSP00000366352:R141W	R	-	1	2	OR11A1	29502977	0.000000	0.05858	0.045000	0.18777	0.014000	0.08584	-1.119000	0.03276	-0.202000	0.10268	-0.700000	0.03674	CGG	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.577	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	protein_coding	OTTHUMT00000193778.1	18	178	0	0.00	0	0	G		rs138146725	G->A		29394998	-1	no_errors	ENST00000377147	ensembl	human	known	74_37	missense	11	118	52.17	30.18	12	51	SNP	0	A
PPP1R10	5514	genome.wustl.edu	37	6	30570148	30570148	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:30570148C>A	ENST00000376511.2	-	19	2830	c.2278G>T	c.(2278-2280)Ggc>Tgc	p.G760C		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	760	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTGCCCATGCCCCCACCAGGG	0.672																																							0											0													128.0	139.0	135.0					6																	30570148		1509	2707	4216	SO:0001583	missense	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2278G>T	6.37:g.30570148C>A	ENSP00000365694:p.Gly760Cys		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.G760C	ENST00000376511.2	37	c.2278	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	C	1.777	-0.482900	0.04383	.	.	ENSG00000204569	ENST00000376511	T	0.45276	0.9	4.18	1.34	0.21922	.	0.418054	0.22275	N	0.062218	T	0.11623	0.0283	N	0.08118	0	0.36769	D	0.88372	D	0.53619	0.961	B	0.44278	0.445	T	0.06197	-1.0840	10	0.59425	D	0.04	-3.7353	8.4784	0.33027	0.0:0.7333:0.0:0.2667	.	760	Q96QC0	PP1RA_HUMAN	C	760	ENSP00000365694:G760C	ENSP00000365694:G760C	G	-	1	0	PPP1R10	30678127	0.944000	0.32072	0.693000	0.30195	0.003000	0.03518	1.670000	0.37502	0.164000	0.19529	-0.300000	0.09419	GGC	0	NULL		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	protein_coding	OTTHUMT00000076556.2	79	75	0	0.00	0	0	C	NM_002714	0	0		30570148	-1	no_errors	ENST00000376511	ensembl	human	known	74_37	missense	38	62	35.59	39.22	21	40	SNP	0.974	A
PPP1R10	5514	genome.wustl.edu	37	6	30572490	30572490	+	Missense_Mutation	SNP	G	G	A	rs569378424		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:30572490G>A	ENST00000376511.2	-	12	1529	c.977C>T	c.(976-978)aCg>aTg	p.T326M		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	326	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCTGTGCTCGTTTTCCCTTC	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19435	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													293.0	286.0	288.0					6																	30572490		1511	2709	4220	SO:0001583	missense	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.977C>T	6.37:g.30572490G>A	ENSP00000365694:p.Thr326Met		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.T326M	ENST00000376511.2	37	c.977	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834898	0.32421	.	.	ENSG00000204569	ENST00000376511	T	0.46819	0.86	5.46	4.5	0.54988	.	0.721560	0.13861	N	0.357676	T	0.15869	0.0382	N	0.08118	0	0.33640	D	0.607187	P	0.37708	0.606	B	0.32289	0.143	T	0.12243	-1.0555	10	0.48119	T	0.1	-1.824	15.9423	0.79768	0.0:0.0:0.8559:0.144	.	326	Q96QC0	PP1RA_HUMAN	M	326	ENSP00000365694:T326M	ENSP00000365694:T326M	T	-	2	0	PPP1R10	30680469	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.425000	0.73370	2.561000	0.86390	0.655000	0.94253	ACG	0	NULL		0.537	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	protein_coding	OTTHUMT00000076556.2	49	271	0	0.00	0	0	G	NM_002714	rs569378424	G->A		30572490	-1	no_errors	ENST00000376511	ensembl	human	known	74_37	missense	25	227	24.24	30.79	8	101	SNP	0.947	A
DDX39B	7919	genome.wustl.edu	37	6	31508922	31508922	+	Intron	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:31508922G>A	ENST00000396172.1	-	2	499				DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000376177.2_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000453105.2_Intron|DDX39B_ENST00000458640.1_Intron|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000449074.2_Intron|DDX39B_ENST00000415382.2_Intron|SNORD84_ENST00000584275.1_RNA	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B						ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACTGCGCAAAGCGCTCACCTT	0.502																																							0											0													277.0	247.0	256.0					6																	31508922		876	1991	2867	SO:0001627	intron_variant	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.132-481C>T	6.37:g.31508922G>A			B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	RNA	SNP	0	NULL	ENST00000396172.1	37	NULL	CCDS4697.1	6																																																																																			0	0		0.502	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD84	protein_coding	OTTHUMT00000259083.1	64	129	0	0.00	0	0	G	NM_004640	0	0		31508922	-1	no_errors	ENST00000584275	ensembl	human	known	74_37	rna	33	91	26.67	31.58	12	42	SNP	0.902	A
BAG6	7917	genome.wustl.edu	37	6	31609347	31609347	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:31609347G>A	ENST00000375964.6	-	17	2751	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	BAG6_ENST00000404765.2_Missense_Mutation_p.T843M|BAG6_ENST00000362049.6_Missense_Mutation_p.T807M|BAG6_ENST00000439687.2_Missense_Mutation_p.T681M|BAG6_ENST00000375976.4_Missense_Mutation_p.T807M|BAG6_ENST00000211379.5_Missense_Mutation_p.T807M|BAG6_ENST00000470875.1_5'Flank	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	813					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTCTAGCCCCGTGATCAATGT	0.532																																							0											0													121.0	126.0	125.0					6																	31609347		2203	4300	6503	SO:0001583	missense	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2438C>T	6.37:g.31609347G>A	ENSP00000365131:p.Thr813Met		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.T843M	ENST00000375964.6	37	c.2528	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436041	0.43224	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.02	3.18	0.36537	.	0.290318	0.36555	N	0.002534	T	0.20292	0.0488	N	0.22421	0.69	0.26800	N	0.969217	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	P;D;P;D	0.70716	0.853;0.97;0.891;0.931	T	0.04664	-1.0935	10	0.66056	D	0.02	.	6.7878	0.23683	0.0831:0.0:0.4937:0.4233	.	681;807;813;807	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	M	807;813;807;843;681;807	ENSP00000365143:T807M;ENSP00000365131:T813M;ENSP00000211379:T807M;ENSP00000384494:T843M;ENSP00000402856:T681M;ENSP00000354875:T807M	ENSP00000211379:T807M	T	-	2	0	BAG6	31717326	0.994000	0.37717	0.504000	0.27639	0.767000	0.43475	2.389000	0.44407	0.600000	0.29862	0.650000	0.86243	ACG	0	NULL		0.532	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	protein_coding		56	245	0	0.00	0	0	G	NM_080703	0	0		31609347	-1	no_errors	ENST00000404765	ensembl	human	known	74_37	missense	18	272	14.29	7.48	3	22	SNP	0.839	A
PPP1R2P1	100507444	genome.wustl.edu	37	6	32847176	32847176	+	RNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:32847176C>T	ENST00000420261.1	-	0	449							Q96PQ5	IPP2L_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1						glycogen metabolic process (GO:0005977)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein phosphatase inhibitor activity (GO:0004864)										TGTAGTGAAGCGTCCTTCTCA	0.393																																							0											0																																												0			AF275684		6p21.32	2013-06-10		2001-08-31	ENSG00000234515	ENSG00000234515			9289	pseudogene	pseudogene				PPP1R2P		11696978, 7949733	Standard	NG_027882		Approved	IPP-2P		Q96PQ5	OTTHUMG00000031273		6.37:g.32847176C>T				RNA	SNP	0	NULL	ENST00000420261.1	37	NULL		6																																																																																			0	0		0.393	PPP1R2P1-002	KNOWN	basic	processed_transcript	PPP1R2P1	pseudogene	OTTHUMT00000276488.1	163	134	0	0.00	0	0	C	NG_027882	0	0		32847176	-1	no_errors	ENST00000420261	ensembl	human	known	74_37	rna	68	105	34.62	33.12	36	52	SNP	0.992	T
ZBTB9	221504	genome.wustl.edu	37	6	33424133	33424133	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:33424133G>A	ENST00000395064.2	+	2	1524	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCAACAAGCGCTTCAAGCTG	0.582																																							0											0													77.0	66.0	70.0					6																	33424133		2203	4300	6503	SO:0001583	missense	0			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1256G>A	6.37:g.33424133G>A	ENSP00000378503:p.Arg419His		A2AB19	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R419H	ENST00000395064.2	37	c.1256	CCDS4780.1	6	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494498	0.64186	.	.	ENSG00000213588	ENST00000395064	T	0.43688	0.94	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.285329	0.21589	U	0.072132	T	0.47284	0.1437	M	0.70275	2.135	0.33210	D	0.553289	D	0.76494	0.999	P	0.62184	0.899	T	0.53129	-0.8482	10	0.51188	T	0.08	.	9.4302	0.38606	0.0935:0.0:0.9065:0.0	.	419	Q96C00	ZBTB9_HUMAN	H	419	ENSP00000378503:R419H	ENSP00000378503:R419H	R	+	2	0	ZBTB9	33532111	0.796000	0.28864	1.000000	0.80357	0.999000	0.98932	1.192000	0.32150	2.654000	0.90174	0.655000	0.94253	CGC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.582	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB9	protein_coding	OTTHUMT00000276533.1	30	65	0	0.00	0	0	G	NM_152735	0	0		33424133	1	no_errors	ENST00000395064	ensembl	human	known	74_37	missense	7	52	68.18	30.67	15	23	SNP	1	A
CPNE5	57699	genome.wustl.edu	37	6	36711478	36711478	+	Silent	SNP	G	G	A	rs140027543		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:36711478G>A	ENST00000244751.2	-	20	2175	c.1551C>T	c.(1549-1551)cgC>cgT	p.R517R	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.R225R	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	517	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGACGATGTCGCGTTCAGCCA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		19625	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0								G		1,4405	2.1+/-5.4	0,1,2202	101.0	99.0	100.0		1551	-6.8	0.6	6	dbSNP_134	100	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CPNE5	NM_020939.1		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		517/594	36711478	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1551C>T	6.37:g.36711478G>A			Q7Z6C8	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R517	ENST00000244751.2	37	c.1551	CCDS4825.1	6																																																																																			0	smart_VWF_A,pfscan_VWF_A		0.642	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	protein_coding	OTTHUMT00000040351.1	47	80	0	0.00	0	0	G	NM_020939	rs140027543	G->A		36711478	-1	no_errors	ENST00000244751	ensembl	human	known	74_37	silent	36	59	29.41	23.38	15	18	SNP	0.791	A
DNAH8	1769	genome.wustl.edu	37	6	38690926	38690926	+	5'UTR	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:38690926G>A	ENST00000359357.3	+	0	29				DNAH8_ENST00000449981.2_Missense_Mutation_p.R114Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGATACCGCCGGAGTATGAGT	0.483																																							0											0													97.0	89.0	91.0					6																	38690926		876	1991	2867	SO:0001623	5_prime_UTR_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-226G>A	6.37:g.38690926G>A			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R114Q	ENST00000359357.3	37	c.341		6	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861602	0.32884	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T	0.27557	1.66	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000021	T	0.31040	0.0784	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02391	-1.1166	10	0.13470	T	0.59	.	17.2535	0.87049	0.0:0.0:1.0:0.0	.	114	Q8IU65	.	Q	114;102;102	ENSP00000333363:R102Q	ENSP00000333363:R102Q	R	+	2	0	DNAH8	38798904	0.812000	0.29077	0.199000	0.23439	0.055000	0.15305	5.190000	0.65104	2.805000	0.96524	0.655000	0.94253	CGG	0	NULL		0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	39	152	0	0.00	0	0	G	NM_001206927	0	0		38690926	1	no_errors	ENST00000449981	ensembl	human	known	74_37	missense	15	132	51.61	26.26	16	47	SNP	0.823	A
GLP1R	2740	genome.wustl.edu	37	6	39033981	39033981	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:39033981G>A	ENST00000373256.4	+	5	454	c.411G>A	c.(409-411)ccG>ccA	p.P137P		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	137				P -> R (in Ref. 4; no nucleotide entry). {ECO:0000305}.|SP -> WG (in Ref. 1; AAA03614). {ECO:0000305}.	activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGAGCTCCCCGGAGGAGCAGC	0.597																																							0											0													126.0	93.0	104.0					6																	39033981		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.411G>A	6.37:g.39033981G>A			Q2M229|Q99669	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.P137	ENST00000373256.4	37	c.411	CCDS4839.1	6																																																																																			0	prints_GPCR_2_GLP1_rcpt		0.597	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	protein_coding	OTTHUMT00000040443.1	30	120	0	0.00	0	0	G		0	0		39033981	1	no_errors	ENST00000373256	ensembl	human	known	74_37	silent	19	92	26.92	36.99	7	54	SNP	0.283	A
PGC	5225	genome.wustl.edu	37	6	41712478	41712478	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:41712478A>G	ENST00000373025.3	-	2	190	c.128T>C	c.(127-129)cTg>cCg	p.L43P	PGC_ENST00000425343.2_Missense_Mutation_p.L43P	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	43					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTGGGTCCTCAGGAACTCCCC	0.527																																							0											0													84.0	71.0	76.0					6																	41712478		2203	4300	6503	SO:0001583	missense	0				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.128T>C	6.37:g.41712478A>G	ENSP00000362116:p.Leu43Pro		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L43P	ENST00000373025.3	37	c.128	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350848	0.24512	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000394278;ENST00000356667;ENST00000425343;ENST00000415707	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.42	4.25	0.50352	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	0.659034	0.14371	N	0.323797	T	0.75332	0.3835	M	0.91612	3.225	0.22819	N	0.998691	D	0.89917	1.0	D	0.78314	0.991	T	0.67829	-0.5569	10	0.46703	T	0.11	.	6.6301	0.22851	0.597:0.1377:0.0:0.2653	.	43	P20142	PEPC_HUMAN	P	43;43;43;43;43;47	ENSP00000362116:L43P;ENSP00000349094:L43P;ENSP00000405094:L43P;ENSP00000399429:L47P	ENSP00000349094:L43P	L	-	2	0	PGC	41820456	1.000000	0.71417	0.367000	0.25926	0.001000	0.01503	2.703000	0.47110	0.902000	0.36520	-0.335000	0.08231	CTG	0	pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom		0.527	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	protein_coding	OTTHUMT00000040521.2	81	228	0	0.00	0	0	A		0	0		41712478	-1	no_errors	ENST00000373025	ensembl	human	known	74_37	missense	31	188	20.51	26.74	8	69	SNP	0.017	G
FRS3	10817	genome.wustl.edu	37	6	41739096	41739096	+	Missense_Mutation	SNP	G	G	A	rs202151715		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:41739096G>A	ENST00000373018.3	-	7	991	c.740C>T	c.(739-741)aCc>aTc	p.T247I	FRS3_ENST00000259748.2_Missense_Mutation_p.T247I	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	247					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGAGCAGGGGTCGGGCCCAA	0.632																																							0											0													52.0	54.0	53.0					6																	41739096		2203	4300	6503	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.740C>T	6.37:g.41739096G>A	ENSP00000362109:p.Thr247Ile		Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.T247I	ENST00000373018.3	37	c.740	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208089	0.39003	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.32753	1.44;1.44	5.37	4.46	0.54185	.	0.261718	0.44688	D	0.000430	T	0.17577	0.0422	L	0.54323	1.7	0.20403	N	0.99991	P	0.38250	0.624	B	0.32864	0.154	T	0.11518	-1.0584	10	0.87932	D	0	-18.659	17.3513	0.87324	0.0:0.1356:0.8643:0.0	.	247	O43559	FRS3_HUMAN	I	247	ENSP00000362109:T247I;ENSP00000259748:T247I	ENSP00000259748:T247I	T	-	2	0	FRS3	41847074	0.980000	0.34600	0.678000	0.29963	0.995000	0.86356	4.362000	0.59467	2.531000	0.85337	0.655000	0.94253	ACC	0	NULL		0.632	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	protein_coding	OTTHUMT00000040532.2	54	194	0	0.51	0	1	G	NM_006653	0	0		41739096	-1	no_errors	ENST00000259748	ensembl	human	known	74_37	missense	35	113	30	32.14	15	54	SNP	0.195	A
PRICKLE4	29964	genome.wustl.edu	37	6	41752671	41752671	+	Splice_Site	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:41752671A>T	ENST00000394260.1	+	2	120		c.e2-1		PRICKLE4_ENST00000394263.1_Splice_Site|PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000359201.5_Splice_Site|PRICKLE4_ENST00000458694.1_Splice_Site|PRICKLE4_ENST00000394259.1_Splice_Site|TOMM6_ENST00000398884.3_5'Flank|TOMM6_ENST00000398881.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)							nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGTTTCTGCAGGAGCGCTAC	0.597																																							0											0													59.0	66.0	64.0					6																	41752671		2203	4300	6503	SO:0001630	splice_region_variant	0			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.121-1A>T	6.37:g.41752671A>T			A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Splice_Site	SNP	0	e3-2	ENST00000394260.1	37	c.241-2		6	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012613	0.54468	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2682	0.37654	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRICKLE4	41860649	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.904000	0.87408	1.692000	0.51112	0.379000	0.24179	.	0	0		0.597	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	protein_coding	OTTHUMT00000303948.1	42	95	0	0.00	0	0	A	NM_013397	0	0	Intron	41752671	1	no_errors	ENST00000335515	ensembl	human	known	74_37	splice_site	21	66	22.22	35.29	6	36	SNP	1	T
POLH	5429	genome.wustl.edu	37	6	43572406	43572406	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:43572406G>A	ENST00000372236.4	+	8	1234	c.939G>A	c.(937-939)agG>agA	p.R313R	POLH_ENST00000535400.1_Silent_p.R251R|POLH_ENST00000372226.1_Silent_p.R313R	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTAAACCCAGGCAACTACCCA	0.423								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																														0											0													115.0	106.0	109.0					6																	43572406		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.939G>A	6.37:g.43572406G>A			O95160|Q6VMB5	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N	p.R313	ENST00000372236.4	37	c.939	CCDS4902.1	6																																																																																			0	pfam_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta		0.423	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLH	protein_coding	OTTHUMT00000040666.1	92	310	0	0.00	0	0	G	NM_006502	0	0		43572406	1	no_errors	ENST00000372236	ensembl	human	known	74_37	silent	64	235	27.27	29.55	24	99	SNP	1	A
SLC29A1	2030	genome.wustl.edu	37	6	44197488	44197488	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:44197488C>A	ENST00000393841.1	+	5	765	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	SLC29A1_ENST00000371740.5_Missense_Mutation_p.L92M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.L92M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.L171M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.L92M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.L92M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	92					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CATGCTGCCCCTGCTGTTATT	0.617																																							0											0													151.0	142.0	145.0					6																	44197488		2203	4300	6503	SO:0001583	missense	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.274C>A	6.37:g.44197488C>A	ENSP00000377424:p.Leu92Met		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.L171M	ENST00000393841.1	37	c.511	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630321	0.67015	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.1	2.32	0.28847	.	0.000000	0.64402	D	0.000001	T	0.42131	0.1189	M	0.91038	3.17	0.46678	D	0.999154	D;D;P;D	0.89917	1.0;0.999;0.956;0.998	D;D;P;P	0.79108	0.992;0.983;0.85;0.873	T	0.41893	-0.9483	10	0.46703	T	0.11	-0.0579	8.3218	0.32134	0.0:0.7509:0.0:0.2491	.	92;111;171;92	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	M	111;92;171;92;92;92;92;92;92;92;92	ENSP00000377427:L92M;ENSP00000319152:L171M;ENSP00000392668:L92M;ENSP00000360820:L92M;ENSP00000360805:L92M;ENSP00000360796:L92M;ENSP00000377424:L92M;ENSP00000360789:L92M;ENSP00000360778:L92M;ENSP00000360773:L92M	ENSP00000319152:L171M	L	+	1	2	SLC29A1	44305466	0.870000	0.30015	0.900000	0.35374	0.943000	0.58893	1.698000	0.37794	0.304000	0.22809	0.563000	0.77884	CTG	0	superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.617	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	protein_coding	OTTHUMT00000040721.1	12	99	0	0.00	0	0	C		0	0		44197488	1	no_errors	ENST00000313248	ensembl	human	known	74_37	missense	8	64	38.46	34.69	5	34	SNP	0.935	A
TDRD6	221400	genome.wustl.edu	37	6	46656324	46656324	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:46656324C>T	ENST00000316081.6	+	1	459	c.459C>T	c.(457-459)gaC>gaT	p.D153D	TDRD6_ENST00000544460.1_Silent_p.D153D|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	153					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGCCCGCCGACGCCGTGGACT	0.692																																							0											0													14.0	15.0	14.0					6																	46656324		2186	4270	6456	SO:0001819	synonymous_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.459C>T	6.37:g.46656324C>T			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D153	ENST00000316081.6	37	c.459	CCDS34470.1	6																																																																																			0	NULL		0.692	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	21	61	0	0.00	0	0	C	XM_166443	0	0		46656324	1	no_errors	ENST00000316081	ensembl	human	known	74_37	silent	14	43	22.22	33.85	4	22	SNP	0	T
GPR115	221393	genome.wustl.edu	37	6	47681763	47681763	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:47681763G>A	ENST00000283303.2	+	6	1040	c.782G>A	c.(781-783)aGc>aAc	p.S261N	GPR115_ENST00000371220.1_Missense_Mutation_p.S318N|GPR115_ENST00000327753.3_Missense_Mutation_p.S261N|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	261					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCTCCATGAGCATGAACAAT	0.408																																					GBM(22;431 510 9010 26644 32828)		0											0													71.0	70.0	70.0					6																	47681763		2203	4300	6503	SO:0001583	missense	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.782G>A	6.37:g.47681763G>A	ENSP00000283303:p.Ser261Asn		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.S318N	ENST00000283303.2	37	c.953	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577235	0.03854	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35421	1.55;1.31;1.31	5.19	-1.57	0.08506	.	0.797373	0.12188	N	0.491441	T	0.07324	0.0185	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42396	-0.9454	10	0.10902	T	0.67	-0.9246	7.0203	0.24910	0.4874:0.1201:0.3925:0.0	.	261	Q8IZF3	GP115_HUMAN	N	318;261;261	ENSP00000360264:S318N;ENSP00000328319:S261N;ENSP00000283303:S261N	ENSP00000283303:S261N	S	+	2	0	GPR115	47789722	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.254000	0.08781	-0.597000	0.05813	0.655000	0.94253	AGC	0	NULL		0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	61	164	0	0.00	0	0	G	NM_153838	0	0		47681763	1	no_errors	ENST00000371220	ensembl	human	known	74_37	missense	21	137	22.22	25.41	6	47	SNP	0	A
PAQR8	85315	genome.wustl.edu	37	6	52268691	52268691	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:52268691C>A	ENST00000442253.2	+	2	854	c.680C>A	c.(679-681)cCt>cAt	p.P227H	PAQR8_ENST00000360726.3_Missense_Mutation_p.P227H	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	227					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GACATCAGCCCTGTGGCACAC	0.547																																							0											0													82.0	81.0	81.0					6																	52268691		2203	4300	6503	SO:0001583	missense	0			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.680C>A	6.37:g.52268691C>A	ENSP00000406197:p.Pro227His		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	pfam_HlyIII-related,superfamily_C-type_lectin_fold	p.P227H	ENST00000442253.2	37	c.680	CCDS4941.1	6	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322369	0.81580	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.35605	1.3;1.3	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70193	-0.4939	9	.	.	.	-17.9512	18.4725	0.90779	0.0:1.0:0.0:0.0	.	227	Q8TEZ7	MPRB_HUMAN	H	227	ENSP00000406197:P227H;ENSP00000353953:P227H	.	P	+	2	0	PAQR8	52376650	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.487000	0.81328	2.610000	0.88304	0.655000	0.94253	CCT	0	pfam_HlyIII-related		0.547	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR8	protein_coding	OTTHUMT00000040903.2	18	160	0	0.62	0	1	C	NM_133367	0	0		52268691	1	no_errors	ENST00000360726	ensembl	human	known	74_37	missense	8	147	46.67	24.23	7	47	SNP	1	A
ICK	22858	genome.wustl.edu	37	6	52870048	52870048	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:52870048T>C	ENST00000350082.5	-	14	2144	c.1798A>G	c.(1798-1800)Acc>Gcc	p.T600A	ICK_ENST00000356971.3_Missense_Mutation_p.T600A	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	600					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CTAGGCTGGGTGTGGAAGAAT	0.572																																							0											0													83.0	86.0	85.0					6																	52870048		2203	4300	6503	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1798A>G	6.37:g.52870048T>C	ENSP00000263043:p.Thr600Ala		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T600A	ENST00000350082.5	37	c.1798	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	T	10.47	1.357909	0.24598	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71698	-0.59;-0.59	6.11	6.11	0.99139	.	0.256125	0.39210	N	0.001421	T	0.28466	0.0704	N	0.11427	0.14	0.29793	N	0.83303	B	0.06786	0.001	B	0.06405	0.002	T	0.04454	-1.0950	10	0.12103	T	0.63	-11.2672	10.984	0.47513	0.1391:0.0:0.0:0.8609	.	600	Q9UPZ9	ICK_HUMAN	A	600	ENSP00000263043:T600A;ENSP00000349458:T600A	ENSP00000263043:T600A	T	-	1	0	ICK	52978007	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.524000	0.45589	2.343000	0.79666	0.533000	0.62120	ACC	0	NULL		0.572	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	protein_coding	OTTHUMT00000040952.1	20	115	0	0.00	0	0	T	NM_016513	0	0		52870048	-1	no_errors	ENST00000350082	ensembl	human	known	74_37	missense	17	104	29.17	26.06	7	37	SNP	1	C
DST	667	genome.wustl.edu	37	6	56472620	56472620	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:56472620T>C	ENST00000361203.3	-	36	6180	c.6173A>G	c.(6172-6174)aAg>aGg	p.K2058R	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.K2058R|DST_ENST00000370754.5_Missense_Mutation_p.K2236R|DST_ENST00000312431.6_Missense_Mutation_p.K2058R|DST_ENST00000446842.2_Missense_Mutation_p.K1732R|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2058					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATTCATCCTTTTCTCTACC	0.378																																							0											0													127.0	129.0	128.0					6																	56472620		1908	4130	6038	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6173A>G	6.37:g.56472620T>C	ENSP00000354508:p.Lys2058Arg		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.K2236R	ENST00000361203.3	37	c.6707		6	.	.	.	.	.	.	.	.	.	.	T	3.971	-0.008289	0.07727	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82984	-0.15;-0.16;0.77;-1.67;-0.19;-0.49	5.5	0.201	0.15186	.	0.230427	0.30036	N	0.010562	T	0.51210	0.1661	.	.	.	0.29771	N	0.834762	P	0.36315	0.547	B	0.29598	0.104	T	0.34551	-0.9824	8	0.51188	T	0.08	.	4.079	0.09917	0.4047:0.1421:0.0:0.4531	.	1732	Q03001-9	.	R	2236;2058;1732;2058;2058;1732	ENSP00000359790:K2236R;ENSP00000359805:K2058R;ENSP00000393645:K1732R;ENSP00000307959:K2058R;ENSP00000354508:K2058R;ENSP00000404924:K1732R	ENSP00000307959:K2058R	K	-	2	0	DST	56580579	0.000000	0.05858	0.078000	0.20375	0.223000	0.24884	-0.035000	0.12205	0.025000	0.15241	0.460000	0.39030	AAG	0	superfamily_ABC1_TM_dom		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	73	240	0	0.00	0	0	T	NM_001723	0	0		56472620	-1	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	41	232	20.75	32.27	11	111	SNP	0	C
PHF3	23469	genome.wustl.edu	37	6	64395254	64395254	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:64395254C>T	ENST00000262043.3	+	4	1971	c.1631C>T	c.(1630-1632)cCa>cTa	p.P544L	PHF3_ENST00000393387.1_Missense_Mutation_p.P544L|PHF3_ENST00000509330.1_Missense_Mutation_p.P544L			Q92576	PHF3_HUMAN	PHD finger protein 3	544					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTCATAGGCCAGTCAAAGTC	0.343																																					GBM(135;136 1820 29512 34071 46235)		0											0													53.0	56.0	55.0					6																	64395254		2203	4298	6501	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1631C>T	6.37:g.64395254C>T	ENSP00000262043:p.Pro544Leu		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.P544L	ENST00000262043.3	37	c.1631	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162357	0.38217	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.56444	1.62;1.28;1.83;1.37;0.46;1.83	5.82	5.82	0.92795	.	0.218999	0.23510	N	0.047416	T	0.62245	0.2412	M	0.64997	1.995	0.51012	D	0.999903	D;D	0.63046	0.974;0.992	P;D	0.64410	0.66;0.925	T	0.64918	-0.6294	10	0.87932	D	0	-6.6805	14.8823	0.70542	0.1434:0.8566:0.0:0.0	.	544;544	Q92576;D6R9X2	PHF3_HUMAN;.	L	358;456;544;497;544;544	ENSP00000424694:P358L;ENSP00000425227:P456L;ENSP00000262043:P544L;ENSP00000424078:P497L;ENSP00000422841:P544L;ENSP00000377048:P544L	ENSP00000262043:P544L	P	+	2	0	PHF3	64453213	0.996000	0.38824	1.000000	0.80357	0.958000	0.62258	2.790000	0.47821	2.753000	0.94483	0.467000	0.42956	CCA	0	NULL		0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	protein_coding	OTTHUMT00000041086.2	85	268	0	0.00	0	0	C		0	0		64395254	1	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	40	225	39.39	27.18	26	84	SNP	1	T
COL9A1	1297	genome.wustl.edu	37	6	70961829	70961829	+	Silent	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:70961829C>A	ENST00000357250.6	-	28	2024	c.1866G>T	c.(1864-1866)ggG>ggT	p.G622G	COL9A1_ENST00000370499.4_Silent_p.G379G|COL9A1_ENST00000320755.7_Silent_p.G379G|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	622	Collagen-like 6.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCACAGGAAGCCCCTGGGGTC	0.488																																							0											0													108.0	121.0	116.0					6																	70961829		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1866G>T	6.37:g.70961829C>A			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G622	ENST00000357250.6	37	c.1866	CCDS4971.1	6																																																																																			0	pfam_Collagen		0.488	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	protein_coding	OTTHUMT00000041131.2	55	164	0	0.00	0	0	C		0	0		70961829	-1	no_errors	ENST00000357250	ensembl	human	known	74_37	silent	38	144	24	27.64	12	55	SNP	0.007	A
EEF1A1	1915	genome.wustl.edu	37	6	74227621	74227621	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:74227621G>A	ENST00000316292.9	-	7	2292	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A434V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A434V|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	434					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GACACCCACCGCAACTGTCTG	0.413											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0													37.0	39.0	39.0					6																	74227621		2203	4300	6503	SO:0001583	missense	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1301C>T	6.37:g.74227621G>A	ENSP00000339063:p.Ala434Val	1151	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.A434V	ENST00000316292.9	37	c.1301	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988280	0.53934	.	.	ENSG00000156508	ENST00000316292;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.55588	0.51;0.51;0.51	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.62048	0.2396	H	0.97240	3.965	0.80722	D	1	B;B;B	0.25312	0.123;0.123;0.123	B;B;B	0.21917	0.037;0.037;0.037	T	0.72811	-0.4180	10	0.72032	D	0.01	.	18.3119	0.90203	0.0:0.0:1.0:0.0	.	434;434;434	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	V	434;434;434;413	ENSP00000339063:A434V;ENSP00000339053:A434V;ENSP00000330054:A434V	ENSP00000339053:A434V	A	-	2	0	EEF1A1	74284342	1.000000	0.71417	0.999000	0.59377	0.611000	0.37282	9.328000	0.96403	2.381000	0.81170	0.556000	0.70494	GCG	0	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	protein_coding	OTTHUMT00000041210.2	77	91	0	0.00	0	0	G	NM_001402	0	0		74227621	-1	no_errors	ENST00000309268	ensembl	human	known	74_37	missense	49	71	24.24	38.98	16	46	SNP	1	A
PHIP	55023	genome.wustl.edu	37	6	79770441	79770441	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:79770441G>T	ENST00000275034.4	-	5	451	c.284C>A	c.(283-285)cCt>cAt	p.P95H		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	95					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTGTACTCCAGGAACACTTTG	0.353																																							0											0													77.0	81.0	79.0					6																	79770441		2203	4300	6503	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.284C>A	6.37:g.79770441G>T	ENSP00000275034:p.Pro95His		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.P95H	ENST00000275034.4	37	c.284	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520142	0.85495	.	.	ENSG00000146247	ENST00000275034	T	0.56941	0.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64042	0.921;0.921	T	0.59606	-0.7423	9	.	.	.	-9.2643	18.8868	0.92381	0.0:0.0:1.0:0.0	.	95;95	A7J992;Q8WWQ0	.;PHIP_HUMAN	H	95	ENSP00000275034:P95H	.	P	-	2	0	PHIP	79827160	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.230000	0.95299	2.715000	0.92844	0.491000	0.48974	CCT	0	NULL		0.353	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	protein_coding	OTTHUMT00000041297.2	86	315	0	0.00	0	0	G		0	0		79770441	-1	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	37	250	28.85	30.94	15	112	SNP	1	T
GABRR1	2569	genome.wustl.edu	37	6	89890146	89890146	+	Silent	SNP	G	G	A	rs185458142		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:89890146G>A	ENST00000454853.2	-	9	1121	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRR1_ENST00000369451.3_Silent_p.R250R|GABRR1_ENST00000435811.1_Silent_p.R320R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	337					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGTAGGAGACGCGCGGCATGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		22900	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													157.0	126.0	136.0					6																	89890146		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1011C>T	6.37:g.89890146G>A			A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.R337	ENST00000454853.2	37	c.1011	CCDS5019.2	6																																																																																			0	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.537	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	27	45	0	0.00	0	0	G		rs185458142	G->A		89890146	-1	no_errors	ENST00000454853	ensembl	human	known	74_37	silent	19	41	29.63	29.31	8	17	SNP	0.019	A
MDN1	23195	genome.wustl.edu	37	6	90359895	90359895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:90359895G>A	ENST00000369393.3	-	97	16169	c.16054C>T	c.(16054-16056)Cga>Tga	p.R5352*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.R5352*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5352					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGTTTAGTCGTTTCCCAGTT	0.363																																							0											0													104.0	88.0	93.0					6																	90359895		2203	4300	6503	SO:0001587	stop_gained	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16054C>T	6.37:g.90359895G>A	ENSP00000358400:p.Arg5352*		O15019|Q5T794	Nonsense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R5352*	ENST00000369393.3	37	c.16054	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	56	26.166330	0.99968	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.86	4.06	0.47325	.	0.077413	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9778	0.41795	0.0:0.1111:0.4715:0.4175	.	.	.	.	X	5352	.	ENSP00000358400:R5352X	R	-	1	2	MDN1	90416616	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.892000	0.69790	0.796000	0.33947	-0.309000	0.09137	CGA	0	pirsf_Midasin		0.363	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	74	294	0	0.34	0	1	G		0	0		90359895	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	nonsense	42	223	25	29.21	14	92	SNP	0.999	A
SIM1	6492	genome.wustl.edu	37	6	100896539	100896539	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:100896539C>T	ENST00000369208.3	-	7	1341	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SIM1_ENST00000262901.4_Missense_Mutation_p.G187S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	187					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTCAAGTAGCCGCTGCAGTGG	0.597																																							0											0													34.0	37.0	36.0					6																	100896539		2203	4300	6503	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.559G>A	6.37:g.100896539C>T	ENSP00000358210:p.Gly187Ser		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.G187S	ENST00000369208.3	37	c.559	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.678783	0.96764	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.74737	-0.87;-0.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.90099	0.6907	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92507	0.6013	10	0.87932	D	0	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	187	P81133	SIM1_HUMAN	S	187	ENSP00000358210:G187S;ENSP00000262901:G187S	ENSP00000262901:G187S	G	-	1	0	SIM1	101003260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.614000	0.88457	0.655000	0.94253	GGC	0	superfamily_PAS		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	protein_coding	OTTHUMT00000041628.3	54	76	0	0.00	0	0	C	NM_005068	0	0		100896539	-1	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	25	88	24.24	22.81	8	26	SNP	1	T
RNF146	81847	genome.wustl.edu	37	6	127608197	127608197	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:127608197G>A	ENST00000368314.1	+	3	863	c.439G>A	c.(439-441)Gct>Act	p.A147T	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.A147T|RNF146_ENST00000309649.3_Missense_Mutation_p.A146T|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000608991.1_Missense_Mutation_p.A146T	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	147	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TCTGTATGTCGCTGATCTTGA	0.413																																							0											0													77.0	72.0	74.0					6																	127608197		2203	4300	6503	SO:0001583	missense	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.439G>A	6.37:g.127608197G>A	ENSP00000357297:p.Ala147Thr		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.A147T	ENST00000368314.1	37	c.439	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322932	0.81580	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.41758	0.99;0.99;0.99	5.8	5.8	0.92144	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.51490	-0.8699	10	0.56958	D	0.05	-17.2677	20.0734	0.97734	0.0:0.0:1.0:0.0	.	147	Q9NTX7	RN146_HUMAN	T	147;146;146	ENSP00000357297:A147T;ENSP00000349253:A146T;ENSP00000309365:A146T	ENSP00000309365:A146T	A	+	1	0	RNF146	127649890	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.550000	0.98110	2.748000	0.94277	0.655000	0.94253	GCT	0	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom		0.413	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	protein_coding	OTTHUMT00000042112.1	42	202	0	0.00	0	0	G	NM_030963	0	0		127608197	1	no_errors	ENST00000368314	ensembl	human	known	74_37	missense	29	157	30.95	27.40	13	60	SNP	1	A
Z97352.1	0	genome.wustl.edu	37	6	130068906	130068906	+	RNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:130068906C>T	ENST00000390707.1	+	0	25																											aaagtaattgcggtttttgcc	0.383																																							0											0																																												0																															6.37:g.130068906C>T				RNA	SNP	0	NULL	ENST00000390707.1	37	NULL		6																																																																																			0	0		0.383	Z97352.1-201	NOVEL	basic	miRNA	ENSG00000211996	miRNA		27	45	0	0.00	0	0	C		0	0		130068906	1	no_errors	ENST00000390707	ensembl	human	novel	74_37	rna	10	54	41.18	21.74	7	15	SNP	0	T
L3MBTL3	84456	genome.wustl.edu	37	6	130425719	130425719	+	Splice_Site	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:130425719A>G	ENST00000529410.1	+	21	2364	c.1885A>G	c.(1885-1887)Aga>Gga	p.R629G	L3MBTL3_ENST00000361794.2_Splice_Site_p.R629G|L3MBTL3_ENST00000368139.2_Splice_Site_p.R604G|L3MBTL3_ENST00000368136.2_Splice_Site_p.R629G|L3MBTL3_ENST00000533560.1_Splice_Site_p.R604G|L3MBTL3_ENST00000526019.1_Splice_Site_p.R604G			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	629					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CCCTGAAATCAGGTAATCAAA	0.343																																							0											0													79.0	82.0	81.0					6																	130425719		2203	4300	6503	SO:0001630	splice_region_variant	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1886+1A>G	6.37:g.130425719A>G			Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.R629G	ENST00000529410.1	37	c.1885	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464834	0.26335	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47	6.17	5.01	0.66863	.	0.671122	0.16406	N	0.215837	T	0.07413	0.0187	L	0.43152	1.355	0.35802	D	0.823208	B;B	0.19200	0.034;0.001	B;B	0.21917	0.037;0.004	T	0.08046	-1.0741	10	0.36615	T	0.2	.	11.7291	0.51726	0.8524:0.1476:0.0:0.0	.	604;629	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	G	629;604;629;604;604;629	ENSP00000431962:R629G;ENSP00000437185:R604G;ENSP00000354526:R629G;ENSP00000357121:R604G;ENSP00000436706:R604G;ENSP00000357118:R629G	ENSP00000354526:R629G	R	+	1	2	L3MBTL3	130467412	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	3.118000	0.50414	1.153000	0.42468	-0.264000	0.10439	AGA	0	NULL		0.343	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	protein_coding	OTTHUMT00000042195.2	125	284	0	0.00	0	0	A	XM_027074	0	0	Missense_Mutation	130425719	1	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	79	205	18.56	29.45	18	86	SNP	1	G
PDE7B	27115	genome.wustl.edu	37	6	136475266	136475266	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:136475266G>A	ENST00000308191.6	+	7	835	c.532G>A	c.(532-534)Gca>Aca	p.A178T	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	178	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGCTGTTCACGCAGCCGACGT	0.488																																							0											0													116.0	92.0	100.0					6																	136475266		2203	4300	6503	SO:0001583	missense	0			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.532G>A	6.37:g.136475266G>A	ENSP00000310661:p.Ala178Thr		Q5W154	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A178T	ENST00000308191.6	37	c.532	CCDS5175.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.704570|4.704570	0.88924|0.88924	.|.	.|.	ENSG00000171408|ENSG00000171408	ENST00000308191;ENST00000367787|ENST00000446774	D|.	0.89050|.	-2.46|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86990|0.86990	0.6066|0.6066	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.89925|0.89925	0.4062|0.4062	10|5	0.87932|.	D|.	0|.	.|.	20.0706|20.0706	0.97721|0.97721	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	230;178|.	A1E5M1;Q9NP56|.	.;PDE7B_HUMAN|.	T|H	178;314|72	ENSP00000310661:A178T|.	ENSP00000310661:A178T|.	A|R	+|+	1|2	0|0	PDE7B|PDE7B	136516959|136516959	1.000000|1.000000	0.71417|0.71417	0.403000|0.403000	0.26384|0.26384	0.451000|0.451000	0.32288|0.32288	9.754000|9.754000	0.98908|0.98908	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.488	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	protein_coding	OTTHUMT00000042371.1	48	165	0	0.60	0	1	G		0	0		136475266	1	no_errors	ENST00000308191	ensembl	human	known	74_37	missense	28	127	28.21	30.22	11	55	SNP	1	A
MAP3K5	4217	genome.wustl.edu	37	6	136934282	136934282	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:136934282A>G	ENST00000359015.4	-	17	2751	c.2391T>C	c.(2389-2391)aaT>aaC	p.N797N	MAP3K5_ENST00000355845.4_Silent_p.N44N	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	797	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAACTATCTGATTGTCATGGA	0.363																																							0											0													162.0	151.0	155.0					6																	136934282		2203	4300	6503	SO:0001819	synonymous_variant	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2391T>C	6.37:g.136934282A>G			A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N797	ENST00000359015.4	37	c.2391	CCDS5179.1	6																																																																																			0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.363	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	118	243	0	0.41	0	1	A		0	0		136934282	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	77	255	24.51	27.07	25	95	SNP	1	G
HIVEP2	3097	genome.wustl.edu	37	6	143092794	143092794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:143092794G>A	ENST00000367604.1	-	4	3721	c.3082C>T	c.(3082-3084)Cga>Tga	p.R1028*	HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.R1028*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.R1028*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1028					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.R1028*(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGCAGCGTCGCATCTCTTTC	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)		0											1	Substitution - Nonsense(1)	central_nervous_system(1)											71.0	72.0	72.0					6																	143092794		2016	4190	6206	SO:0001587	stop_gained	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3082C>T	6.37:g.143092794G>A	ENSP00000356576:p.Arg1028*		Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1028*	ENST00000367604.1	37	c.3082	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	47	13.315653	0.99734	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.56	2.4	0.29515	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.65	14.061	0.64800	0.0:0.0:0.4564:0.5436	.	.	.	.	X	1028	.	ENSP00000012134:R1028X	R	-	1	2	HIVEP2	143134487	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	2.035000	0.41155	0.674000	0.31244	0.655000	0.94253	CGA	0	NULL		0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	16	114	0	0.00	0	0	G		0	0		143092794	-1	no_errors	ENST00000012134	ensembl	human	known	74_37	nonsense	19	71	38.71	27.55	12	27	SNP	1	A
NUP43	348995	genome.wustl.edu	37	6	150063622	150063622	+	Missense_Mutation	SNP	C	C	A	rs147466189		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:150063622C>A	ENST00000340413.2	-	4	482	c.406G>T	c.(406-408)Ggt>Tgt	p.G136C	NUP43_ENST00000367403.3_Missense_Mutation_p.G197C|NUP43_ENST00000463048.3_5'Flank|NUP43_ENST00000367404.4_Missense_Mutation_p.G136C|NUP43_ENST00000460354.2_Missense_Mutation_p.G136C	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	136					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CACACAACACCTGTACATGGT	0.478																																							0											0													213.0	190.0	198.0					6																	150063622		2203	4300	6503	SO:0001583	missense	0			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.406G>T	6.37:g.150063622C>A	ENSP00000342262:p.Gly136Cys		B4E2F0|Q9H8S0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G136C	ENST00000340413.2	37	c.406	CCDS5218.1	6	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479820	0.63849	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.69561	0.03;0.03;-0.41;-0.41;-0.41	5.27	3.45	0.39498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.206086	0.50627	D	0.000115	T	0.70509	0.3232	M	0.71581	2.175	0.49130	D	0.999759	D;B	0.71674	0.998;0.44	P;B	0.60789	0.879;0.08	T	0.71481	-0.4580	10	0.48119	T	0.1	-23.7619	12.1529	0.54059	0.0:0.8741:0.0:0.1259	.	136;136	B4E2F0;Q8NFH3	.;NUP43_HUMAN	C	136;136;197;136;143	ENSP00000342262:G136C;ENSP00000432401:G136C;ENSP00000356373:G197C;ENSP00000356374:G136C;ENSP00000438031:G143C	ENSP00000342262:G136C	G	-	1	0	NUP43	150105315	0.985000	0.35326	0.875000	0.34327	0.972000	0.66771	3.622000	0.54217	2.466000	0.83321	0.650000	0.86243	GGT	0	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.478	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP43	protein_coding	OTTHUMT00000396947.1	66	226	0	0.00	0	0	C	NM_198887	0	0		150063622	-1	no_errors	ENST00000340413	ensembl	human	known	74_37	missense	27	195	32.5	24.71	13	64	SNP	0.766	A
PHF10	55274	genome.wustl.edu	37	6	170117990	170117990	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:170117990C>T	ENST00000339209.4	-	4	461	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	PHF10_ENST00000366780.4_Missense_Mutation_p.R111Q|PHF10_ENST00000464779.1_5'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	113	Essential to induce neural progenitor proliferation. {ECO:0000250}.|SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		AGACAAATCTCGTCGCTCTAA	0.318																																							0											0													40.0	37.0	38.0					6																	170117990		2202	4298	6500	SO:0001583	missense	0			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.338G>A	6.37:g.170117990C>T	ENSP00000341805:p.Arg113Gln		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R113Q	ENST00000339209.4	37	c.338	CCDS5308.2	6	.	.	.	.	.	.	.	.	.	.	C	36	5.599208	0.96614	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.77557	0.99;0.782	T	0.59348	-0.7471	10	0.87932	D	0	-15.2261	19.3504	0.94381	0.0:1.0:0.0:0.0	.	111;113	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	Q	111;113	ENSP00000355743:R111Q;ENSP00000341805:R113Q	ENSP00000341805:R113Q	R	-	2	0	PHF10	169859915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.177000	0.77650	2.885000	0.99019	0.655000	0.94253	CGA	0	NULL		0.318	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF10	protein_coding	OTTHUMT00000346732.1	66	280	0	0.00	0	0	C	NM_018288	0	0		170117990	-1	no_errors	ENST00000339209	ensembl	human	known	74_37	missense	49	206	32.88	29.21	24	85	SNP	1	T
C7orf50	84310	genome.wustl.edu	37	7	1166957	1166957	+	Missense_Mutation	SNP	G	G	A	rs190705576		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:1166957G>A	ENST00000397098.3	-	2	991	c.65C>T	c.(64-66)gCg>gTg	p.A22V	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.A22V|C7orf50_ENST00000357429.6_Missense_Mutation_p.A22V			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	22							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTCTGCTGACGCCTTCTTCAG	0.537																																							0											0													67.0	58.0	61.0					7																	1166957		2203	4300	6503	SO:0001583	missense	0			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.65C>T	7.37:g.1166957G>A	ENSP00000380286:p.Ala22Val			Missense_Mutation	SNP	pfam_DUF2373	p.A22V	ENST00000397098.3	37	c.65	CCDS5320.1	7	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.017	-1.511422	0.00984	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.47	-1.5	0.08691	.	0.961008	0.08583	N	0.924268	T	0.13500	0.0327	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.28618	-1.0038	9	0.24483	T	0.36	-3.1129	7.4348	0.27150	0.5475:0.0:0.4525:0.0	.	22	Q9BRJ6	CG050_HUMAN	V	22	.	ENSP00000350011:A22V	A	-	2	0	C7orf50	1133483	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.727000	0.04931	-0.357000	0.08175	-0.880000	0.02959	GCG	0	NULL		0.537	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf50	protein_coding	OTTHUMT00000322817.3	43	129	0	0.00	0	0	G	NM_032350	rs190705576	G->A		1166957	-1	no_errors	ENST00000357429	ensembl	human	known	74_37	missense	24	151	27.27	25.25	9	51	SNP	0.005	A
FOXK1	221937	genome.wustl.edu	37	7	4799132	4799132	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:4799132G>A	ENST00000328914.4	+	7	1602	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S	FOXK1_ENST00000446823.1_Silent_p.S371S	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTGCCAACTCGGCCAACGGAT	0.687																																							0											0													32.0	26.0	28.0					7																	4799132		2187	4294	6481	SO:0001819	synonymous_variant	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1602G>A	7.37:g.4799132G>A				Silent	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.S534	ENST00000328914.4	37	c.1602	CCDS34591.1	7																																																																																			0	NULL		0.687	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	protein_coding	OTTHUMT00000323729.2	39	54	2.5	0.00	1	0	G		0	0		4799132	1	no_errors	ENST00000328914	ensembl	human	known	74_37	silent	22	68	26.67	23.60	8	21	SNP	0.004	A
RADIL	55698	genome.wustl.edu	37	7	4856928	4856928	+	Missense_Mutation	SNP	G	G	A	rs369367147		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:4856928G>A	ENST00000399583.3	-	7	1857	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	RADIL_ENST00000538469.1_Missense_Mutation_p.A317V|RADIL_ENST00000536091.1_Silent_p.G503G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	557	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCCAGCACCGCCATGGCCTC	0.642																																							0											0								G	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	57.0	63.0	61.0		1670	5.7	1.0	7		61	1,8597	1.2+/-3.3	0,1,4298	no	missense	RADIL	NM_018059.4	64	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign	557/1076	4856928	2,13000	2202	4299	6501	SO:0001583	missense	0			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1670C>T	7.37:g.4856928G>A	ENSP00000382492:p.Ala557Val		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.A557V	ENST00000399583.3	37	c.1670	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	g	27.4	4.827239	0.90955	2.27E-4	1.16E-4	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.42131	0.98;0.98	5.7	5.7	0.88788	Dilute (1);	0.055638	0.64402	D	0.000001	T	0.40909	0.1136	M	0.63843	1.955	0.80722	D	1	D	0.54964	0.969	B	0.36464	0.225	T	0.46898	-0.9158	10	0.46703	T	0.11	-41.4479	18.4064	0.90538	0.0:0.0:1.0:0.0	.	557	Q96JH8	RADIL_HUMAN	V	557;528;291;317	ENSP00000382492:A557V;ENSP00000442966:A317V	ENSP00000320946:A528V	A	-	2	0	RADIL	4823454	1.000000	0.71417	0.984000	0.44739	0.758000	0.43043	6.357000	0.73051	2.696000	0.92011	0.457000	0.33378	GCG	0	pfscan_Dilute		0.642	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	protein_coding	OTTHUMT00000323769.2	38	51	0	0.00	0	0	G	NM_018059	rs369367147	G->A		4856928	-1	no_errors	ENST00000399583	ensembl	human	known	74_37	missense	20	36	38.24	36.84	13	21	SNP	0.998	A
AIMP2	7965	genome.wustl.edu	37	7	6062967	6062967	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:6062967C>T	ENST00000223029.3	+	4	727	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AIMP2_ENST00000395236.2_Missense_Mutation_p.T134M|AIMP2_ENST00000400479.2_Missense_Mutation_p.T125M|EIF2AK1_ENST00000199389.6_3'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	203	Interaction with TP53.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGCATCCAGACGATGTGCCCC	0.507																																							0											0													103.0	97.0	99.0					7																	6062967		2203	4300	6503	SO:0001583	missense	0			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.608C>T	7.37:g.6062967C>T	ENSP00000223029:p.Thr203Met		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.T203M	ENST00000223029.3	37	c.608	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855728	0.71834	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.31510	1.52;1.49;1.51	5.27	1.19	0.21007	.	0.219424	0.47455	D	0.000238	T	0.37785	0.1016	L	0.57536	1.79	0.80722	D	1	D	0.59357	0.985	P	0.56916	0.809	T	0.13229	-1.0517	10	0.72032	D	0.01	-12.0898	4.4496	0.11614	0.2491:0.4078:0.2733:0.0698	.	203	Q13155	AIMP2_HUMAN	M	203;125;134	ENSP00000223029:T203M;ENSP00000383327:T125M;ENSP00000378658:T134M	ENSP00000223029:T203M	T	+	2	0	AIMP2	6029493	0.965000	0.33210	0.932000	0.37286	0.978000	0.69477	2.276000	0.43408	-0.071000	0.12886	0.555000	0.69702	ACG	0	NULL		0.507	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	protein_coding	OTTHUMT00000242834.2	77	129	0	0.00	0	0	C	NM_006303	0	0		6062967	1	no_errors	ENST00000223029	ensembl	human	known	74_37	missense	49	81	29.58	30.17	21	35	SNP	0.972	T
NOD1	10392	genome.wustl.edu	37	7	30492633	30492633	+	Nonsense_Mutation	SNP	G	G	A	rs371807148		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:30492633G>A	ENST00000222823.4	-	6	925	c.400C>T	c.(400-402)Cga>Tga	p.R134*	NOD1_ENST00000423334.2_Nonsense_Mutation_p.R134*	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	134					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGATGGTGTCGCAGCTGCTGG	0.587																																							0											0								G	stop/ARG	0,4406		0,0,2203	54.0	49.0	50.0		400	5.3	1.0	7		50	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	NOD1	NM_006092.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		134/954	30492633	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.400C>T	7.37:g.30492633G>A	ENSP00000222823:p.Arg134*		B4DTU3|Q549U4|Q8IWF5	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.R134*	ENST00000222823.4	37	c.400	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.302813	0.97458	0.0	1.16E-4	ENSG00000106100	ENST00000222823;ENST00000423334	.	.	.	5.31	5.31	0.75309	.	0.159248	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7367	0.51769	0.0:0.0:0.8118:0.1882	.	.	.	.	X	134	.	ENSP00000222823:R134X	R	-	1	2	NOD1	30459158	1.000000	0.71417	0.977000	0.42913	0.877000	0.50540	2.735000	0.47377	2.490000	0.84030	0.650000	0.86243	CGA	0	NULL		0.587	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	protein_coding	OTTHUMT00000250443.2	20	37	0	0.00	0	0	G		rs371807148	G->A		30492633	-1	no_errors	ENST00000222823	ensembl	human	known	74_37	nonsense	4	29	66.67	29.27	8	12	SNP	0.99	A
ELMO1	9844	genome.wustl.edu	37	7	36934507	36934507	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:36934507C>T	ENST00000310758.4	-	17	2200	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	ELMO1_ENST00000442504.1_Missense_Mutation_p.R518H|ELMO1_ENST00000396040.2_Missense_Mutation_p.R38H|ELMO1_ENST00000396045.3_Missense_Mutation_p.R38H|ELMO1_ENST00000448602.1_Missense_Mutation_p.R518H|ELMO1_ENST00000341056.3_Missense_Mutation_p.R220H	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	518					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCGGACTGGCGGATTTTCAG	0.473																																							0											0													181.0	163.0	169.0					7																	36934507		2203	4300	6503	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1553G>A	7.37:g.36934507C>T	ENSP00000312185:p.Arg518His		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R518H	ENST00000310758.4	37	c.1553	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.691810	0.96793	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.71108	-0.4688	10	0.52906	T	0.07	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	518	Q92556	ELMO1_HUMAN	H	220;38;518;422;38;518;518	ENSP00000342142:R220H;ENSP00000379360:R38H;ENSP00000312185:R518H;ENSP00000379355:R38H;ENSP00000406952:R518H;ENSP00000394458:R518H	ENSP00000312185:R518H	R	-	2	0	ELMO1	36901032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.805000	0.96524	0.655000	0.94253	CGC	0	NULL		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	protein_coding	OTTHUMT00000219830.4	87	273	0	0.00	0	0	C	NM_130442	0	0		36934507	-1	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	56	191	25.97	29.78	20	81	SNP	1	T
GLI3	2737	genome.wustl.edu	37	7	42004804	42004804	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:42004804G>A	ENST00000395925.3	-	15	3951	c.3867C>T	c.(3865-3867)agC>agT	p.S1289S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1289					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTGGCCCCCGCTCCCTTGCA	0.622									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														0											0													40.0	41.0	41.0					7																	42004804		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3867C>T	7.37:g.42004804G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1289	ENST00000395925.3	37	c.3867	CCDS5465.1	7																																																																																			0	NULL		0.622	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	protein_coding	OTTHUMT00000250806.3	26	70	0	0.00	0	0	G	NM_000168	0	0		42004804	-1	no_errors	ENST00000395925	ensembl	human	known	74_37	silent	18	36	25	30.77	6	16	SNP	0.002	A
HECW1	23072	genome.wustl.edu	37	7	43484345	43484345	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:43484345G>A	ENST00000395891.2	+	11	2179	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R525Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	525					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGCAGCTGCGGGCCTCGGTG	0.657																																							0											0													25.0	34.0	31.0					7																	43484345		2131	4231	6362	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1574G>A	7.37:g.43484345G>A	ENSP00000379228:p.Arg525Gln		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R525Q	ENST00000395891.2	37	c.1574	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750279	0.15778	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34472	1.44;1.36	5.32	4.43	0.53597	.	7.416330	0.00166	N	0.000001	T	0.41419	0.1158	L	0.46157	1.445	0.09310	N	0.999995	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.46843	-0.9162	10	0.32370	T	0.25	.	15.9953	0.80234	0.0:0.135:0.865:0.0	.	525;525	B4DH42;Q76N89	.;HECW1_HUMAN	Q	525	ENSP00000379228:R525Q;ENSP00000407774:R525Q	ENSP00000265522:R525Q	R	+	2	0	HECW1	43450870	0.488000	0.25996	0.717000	0.30585	0.181000	0.23173	2.952000	0.49097	1.220000	0.43490	0.655000	0.94253	CGG	0	NULL		0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	34	54	0	0.00	0	0	G	NM_015052	0	0		43484345	1	no_errors	ENST00000395891	ensembl	human	known	74_37	missense	17	53	15	24.29	3	17	SNP	0.063	A
FKBP6	8468	genome.wustl.edu	37	7	72742644	72742644	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:72742644G>A	ENST00000252037.4	+	2	193	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	TRIM50_ENST00000493498.1_5'Flank|FKBP6_ENST00000431982.2_Missense_Mutation_p.V37I|FKBP6_ENST00000413573.2_Missense_Mutation_p.V42I|TRIM50_ENST00000333149.2_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	42					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGAAGGACGTCATCCGAGA	0.602																																							0											0													11.0	12.0	12.0					7																	72742644		2142	4226	6368	SO:0001583	missense	0			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.124G>A	7.37:g.72742644G>A	ENSP00000252037:p.Val42Ile		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.V42I	ENST00000252037.4	37	c.124	CCDS43595.1	7	.	.	.	.	.	.	.	.	.	.	G	8.381	0.837483	0.16891	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.56103	0.93;0.93;0.48;0.93	4.66	1.22	0.21188	.	0.200120	0.41712	N	0.000830	T	0.26159	0.0638	N	0.16656	0.425	0.38647	D	0.951741	B;B	0.17038	0.02;0.003	B;B	0.09377	0.004;0.002	T	0.26815	-1.0092	10	0.02654	T	1	-17.0788	7.1149	0.25411	0.3795:0.0:0.6205:0.0	.	37;42	O75344-2;O75344	.;FKBP6_HUMAN	I	37;37;42;42	ENSP00000416277:V37I;ENSP00000402360:V37I;ENSP00000394952:V42I;ENSP00000252037:V42I	ENSP00000252037:V42I	V	+	1	0	FKBP6	72380580	1.000000	0.71417	0.631000	0.29282	0.839000	0.47603	3.055000	0.49916	0.198000	0.20407	0.485000	0.47835	GTC	0	NULL		0.602	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	protein_coding	OTTHUMT00000318723.1	30	42	0	0.00	0	0	G	NM_003602	0	0		72742644	1	no_errors	ENST00000252037	ensembl	human	known	74_37	missense	9	47	52.63	31.88	10	22	SNP	0.958	A
CLIP2	7461	genome.wustl.edu	37	7	73787283	73787283	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:73787283G>A	ENST00000395060.1	+	8	1402	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	CLIP2_ENST00000223398.6_Missense_Mutation_p.A468T|CLIP2_ENST00000361545.5_Intron			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	468						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCTGGAGCACGCGCGCATTGG	0.687																																							0											0													14.0	15.0	14.0					7																	73787283		2192	4286	6478	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1402G>A	7.37:g.73787283G>A	ENSP00000378500:p.Ala468Thr		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.A468T	ENST00000395060.1	37	c.1402	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182248	0.57800	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000395060	T;T	0.61158	0.13;0.13	4.77	3.89	0.44902	.	0.253423	0.39020	N	0.001492	T	0.53883	0.1824	L	0.57536	1.79	0.38261	D	0.941886	D	0.58970	0.984	B	0.43155	0.41	T	0.62129	-0.6919	10	0.56958	D	0.05	-36.1475	11.6907	0.51514	0.0874:0.0:0.9126:0.0	.	468	Q9UDT6	CLIP2_HUMAN	T	468	ENSP00000223398:A468T;ENSP00000378500:A468T	ENSP00000223398:A468T	A	+	1	0	CLIP2	73425219	1.000000	0.71417	0.981000	0.43875	0.255000	0.26057	7.668000	0.83897	1.026000	0.39733	-0.147000	0.13772	GCG	0	NULL		0.687	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	26	18	0	0.00	0	0	G	NM_003388	0	0		73787283	1	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	9	24	30.77	27.27	4	9	SNP	1	A
RHBDD2	57414	genome.wustl.edu	37	7	75511247	75511247	+	Silent	SNP	C	C	T	rs372131603		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:75511247C>T	ENST00000006777.6	+	2	414	c.279C>T	c.(277-279)acC>acT	p.T93T	RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	93						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TCGAGAGAACCGTGGGCACCG	0.527																																							0											0								C	,	0,4210		0,0,2105	123.0	134.0	130.0		279,	2.8	1.0	7		130	1,8467		0,1,4233	no	coding-synonymous,utr-5	RHBDD2	NM_001040456.1,NM_001040457.1	,	0,1,6338	TT,TC,CC		0.0118,0.0,0.0079	,	93/365,	75511247	1,12677	2105	4234	6339	SO:0001819	synonymous_variant	0			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.279C>T	7.37:g.75511247C>T			Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	pfam_Peptidase_S54_rhomboid_dom	p.T93	ENST00000006777.6	37	c.279	CCDS43602.1	7																																																																																			0	pfam_Peptidase_S54_rhomboid_dom		0.527	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	protein_coding	OTTHUMT00000344176.1	30	119	0	0.00	0	0	C	NM_020684	rs372131603	C->T		75511247	1	no_errors	ENST00000006777	ensembl	human	known	74_37	silent	11	141	38.89	22.95	7	42	SNP	0.999	T
PCLO	27445	genome.wustl.edu	37	7	82581891	82581891	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:82581891T>G	ENST00000333891.9	-	5	8715	c.8378A>C	c.(8377-8379)gAg>gCg	p.E2793A	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.E2793A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTCACTGTCTCAGTGGCCAG	0.433																																							0											0													201.0	174.0	183.0					7																	82581891		2008	4171	6179	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8378A>C	7.37:g.82581891T>G	ENSP00000334319:p.Glu2793Ala			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E2793A	ENST00000333891.9	37	c.8378	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	2.109	-0.404260	0.04832	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14893	2.47;2.5	5.39	4.23	0.50019	.	.	.	.	.	T	0.14141	0.0342	L	0.38531	1.155	0.58432	D	0.999995	B;B	0.31548	0.328;0.264	B;B	0.31101	0.124;0.085	T	0.04481	-1.0948	9	0.87932	D	0	.	9.3292	0.38012	0.0:0.1461:0.0:0.8539	.	2793;2793	Q9Y6V0-5;Q9Y6V0-6	.;.	A	2724;2793;2793	ENSP00000334319:E2793A;ENSP00000388393:E2793A	ENSP00000334319:E2793A	E	-	2	0	PCLO	82419827	1.000000	0.71417	0.005000	0.12908	0.275000	0.26752	4.793000	0.62474	0.976000	0.38417	0.533000	0.62120	GAG	0	NULL		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	48	110	2.04	0.00	1	0	T	NM_014510	0	0		82581891	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	24	73	31.43	35.40	11	40	SNP	0.371	G
ABCB4	5244	genome.wustl.edu	37	7	87053299	87053299	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:87053299C>T	ENST00000265723.4	-	17	2245	c.2134G>A	c.(2134-2136)Gtc>Atc	p.V712I	ABCB4_ENST00000545634.1_Missense_Mutation_p.V712I|ABCB4_ENST00000453593.1_Missense_Mutation_p.V712I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V712I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V712I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	712	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTTCCCACGACAAAGTAGGGC	0.448																																							0											0													173.0	168.0	170.0					7																	87053299		2203	4300	6503	SO:0001583	missense	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2134G>A	7.37:g.87053299C>T	ENSP00000265723:p.Val712Ile		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V712I	ENST00000265723.4	37	c.2134	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784645	0.70222	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	6.11	5.21	0.72293	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.131311	0.50627	D	0.000119	D	0.89037	0.6601	L	0.38953	1.18	0.39561	D	0.969128	B;P;P	0.49559	0.113;0.907;0.925	B;P;P	0.53518	0.113;0.607;0.728	D	0.89415	0.3706	10	0.44086	T	0.13	-15.4138	14.9887	0.71368	0.2598:0.7402:0.0:0.0	.	712;712;712	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	I	712	ENSP00000352135:V712I;ENSP00000351172:V712I;ENSP00000265723:V712I;ENSP00000392983:V712I;ENSP00000437465:V712I	ENSP00000265723:V712I	V	-	1	0	ABCB4	86891235	1.000000	0.71417	0.883000	0.34634	0.976000	0.68499	2.190000	0.42630	1.554000	0.49487	0.655000	0.94253	GTC	0	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.448	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	protein_coding	OTTHUMT00000336083.1	39	192	0	0.00	0	0	C	NM_000443	0	0		87053299	-1	no_errors	ENST00000265723	ensembl	human	known	74_37	missense	16	177	30.43	26.25	7	63	SNP	0.8	T
TRRAP	8295	genome.wustl.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	C	G	rs147405090		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:98509802C>G	ENST00000359863.4	+	18	2374	c.2165C>G	c.(2164-2166)tCc>tGc	p.S722C	TRRAP_ENST00000355540.3_Missense_Mutation_p.S722C|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722			S -> F (found in a cutaneous malignant melanoma sample; somatic mutation; induces cell transformation and confers resistance to apoptosis). {ECO:0000269|PubMed:21499247}.		chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.S722F(10)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463																																							0											10	Substitution - Missense(10)	skin(10)											170.0	147.0	155.0					7																	98509802		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2165C>G	7.37:g.98509802C>G	ENSP00000352925:p.Ser722Cys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S722C	ENST00000359863.4	37	c.2165	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.795903|4.795903	0.90453|0.90453	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03358	.|3.96;3.96	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22360|0.22360	0.0539|0.0539	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.75484	.|0.986;0.982;0.971	T|T	0.00460|0.00460	-1.1726|-1.1726	5|10	.|0.87932	.|D	.|0	.|.	19.423|19.423	0.94729|0.94729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|722;436;722	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	A|C	437|722;722;720	.|ENSP00000352925:S722C;ENSP00000347733:S722C	.|ENSP00000347733:S722C	P|S	+|+	1|2	0|0	TRRAP|TRRAP	98347738|98347738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	CCC|TCC	0	superfamily_ARM-type_fold		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	protein_coding	OTTHUMT00000317978.1	50	243	0	0.00	0	0	C	NM_003496	0	0		98509802	1	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	35	167	31.37	27.71	16	64	SNP	1	G
KPNA7	402569	genome.wustl.edu	37	7	98786033	98786033	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:98786033C>T	ENST00000327442.6	-	6	829	c.790G>A	c.(790-792)Gca>Aca	p.A264T		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	264					cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						TAGGACAGTGCCCAGCAGGCA	0.607																																							0											0													60.0	50.0	53.0					7																	98786033		692	1591	2283	SO:0001583	missense	0				CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.790G>A	7.37:g.98786033C>T	ENSP00000330878:p.Ala264Thr		A4D277	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.A264T	ENST00000327442.6	37	c.790	CCDS47651.1	7	.	.	.	.	.	.	.	.	.	.	-	22.6	4.309322	0.81247	.	.	ENSG00000185467	ENST00000327442	T	0.78481	-1.18	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89632	0.6771	M	0.88906	2.99	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	D	0.91239	0.5020	10	0.87932	D	0	-1.7443	18.5814	0.91172	0.0:1.0:0.0:0.0	.	264	A9QM74	IMA8_HUMAN	T	264	ENSP00000330878:A264T	ENSP00000330878:A264T	A	-	1	0	KPNA7	98623969	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	6.068000	0.71201	2.638000	0.89438	0.550000	0.68814	GCA	0	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.607	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA7	protein_coding	OTTHUMT00000335118.1	21	94	0	0.00	0	0	C	NM_001145715	0	0		98786033	-1	no_errors	ENST00000327442	ensembl	human	known	74_37	missense	9	93	25	23.58	3	29	SNP	1	T
ARPC1A	10552	genome.wustl.edu	37	7	98951683	98951683	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:98951683C>T	ENST00000262942.5	+	6	776	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ARPC1A_ENST00000432884.2_Missense_Mutation_p.R171C|ARPC1A_ENST00000471960.1_3'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	218					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGGGAGCCGCCTGGCCTG	0.577																																							0											0													55.0	58.0	57.0					7																	98951683		2203	4300	6503	SO:0001583	missense	0			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.652C>T	7.37:g.98951683C>T	ENSP00000262942:p.Arg218Cys		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R218C	ENST00000262942.5	37	c.652	CCDS5660.1	7	.	.	.	.	.	.	.	.	.	.	c	15.23	2.770471	0.49680	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66815	-0.23;-0.23	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049279	0.85682	D	0.000000	T	0.62780	0.2456	L	0.60455	1.87	0.80722	D	1	B;B	0.25955	0.138;0.031	B;B	0.24006	0.05;0.005	T	0.62623	-0.6815	10	0.48119	T	0.1	.	13.6922	0.62553	0.1544:0.8456:0.0:0.0	.	213;218	Q53GB6;Q92747	.;ARC1A_HUMAN	C	171;218	ENSP00000408578:R171C;ENSP00000262942:R218C	ENSP00000262942:R218C	R	+	1	0	ARPC1A	98789619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.578000	0.53892	2.516000	0.84829	0.555000	0.69702	CGC	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1		0.577	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	protein_coding	OTTHUMT00000335908.1	47	83	0	0.00	0	0	C	NM_006409	0	0		98951683	1	no_errors	ENST00000262942	ensembl	human	known	74_37	missense	20	70	31.03	32.69	9	34	SNP	1	T
ZNF394	84124	genome.wustl.edu	37	7	99091546	99091546	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:99091546C>T	ENST00000337673.6	-	3	1495	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	431					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACTTTGATGACGATTTAGGTG	0.463																																					Ovarian(24;589 697 9939 12704 40742)		0											0													109.0	110.0	110.0					7																	99091546		2203	4300	6503	SO:0001583	missense	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1292G>A	7.37:g.99091546C>T	ENSP00000337363:p.Arg431His		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R431H	ENST00000337673.6	37	c.1292	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669104	0.47677	.	.	ENSG00000160908	ENST00000337673	T	0.16743	2.32	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168342	0.28927	N	0.013686	T	0.28732	0.0712	L	0.47016	1.485	0.36210	D	0.851297	D	0.89917	1.0	D	0.69479	0.964	T	0.10177	-1.0641	10	0.36615	T	0.2	.	9.2494	0.37547	0.0:0.7785:0.2214:0.0	.	431	Q53GI3	ZN394_HUMAN	H	431	ENSP00000337363:R431H	ENSP00000337363:R431H	R	-	2	0	ZNF394	98929482	0.000000	0.05858	0.991000	0.47740	0.966000	0.64601	-1.006000	0.03671	2.292000	0.77174	0.655000	0.94253	CGT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	protein_coding	OTTHUMT00000336498.1	53	219	0	0.45	0	1	C	NM_032164	0	0		99091546	-1	no_errors	ENST00000337673	ensembl	human	known	74_37	missense	26	165	34.15	27.95	14	64	SNP	0.489	T
ZKSCAN1	7586	genome.wustl.edu	37	7	99621354	99621354	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:99621354T>A	ENST00000324306.6	+	2	459	c.225T>A	c.(223-225)agT>agA	p.S75R	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S39R|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGCTCTCAGTCGGCTGAAGG	0.547																																							0											0													66.0	74.0	71.0					7																	99621354		2203	4300	6503	SO:0001583	missense	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.225T>A	7.37:g.99621354T>A	ENSP00000323148:p.Ser75Arg		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S75R	ENST00000324306.6	37	c.225	CCDS34698.1	7	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862728	0.32884	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000432317	T;T;T	0.04862	3.54;3.54;3.54	4.63	3.49	0.39957	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.205118	0.34932	N	0.003576	T	0.07999	0.0200	M	0.64170	1.965	0.80722	D	1	P;B	0.37101	0.582;0.324	B;B	0.37267	0.245;0.172	T	0.09907	-1.0653	10	0.72032	D	0.01	.	5.8304	0.18577	0.0:0.205:0.0:0.795	.	75;39	P17029;E9PC66	ZKSC1_HUMAN;.	R	75;39;75	ENSP00000323148:S75R;ENSP00000409172:S39R;ENSP00000394445:S75R	ENSP00000323148:S75R	S	+	3	2	ZKSCAN1	99459290	0.994000	0.37717	1.000000	0.80357	0.882000	0.50991	0.301000	0.19174	0.815000	0.34398	0.397000	0.26171	AGT	0	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.547	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	protein_coding	OTTHUMT00000344550.2	39	170	0	0.00	0	0	T	NM_003439	0	0		99621354	1	no_errors	ENST00000324306	ensembl	human	known	74_37	missense	18	139	30.77	23.20	8	42	SNP	1	A
SPDYE3	441272	genome.wustl.edu	37	7	99905529	99905529	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:99905529G>T	ENST00000332397.6	+	1	205	c.21G>T	c.(19-21)caG>caT	p.Q7H	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	7										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						ATCAACCGCAGCCCCAGGAAG	0.572																																							0											0													16.0	15.0	15.0					7																	99905529		874	1984	2858	SO:0001583	missense	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.21G>T	7.37:g.99905529G>T	ENSP00000329565:p.Gln7His		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.Q7H	ENST00000332397.6	37	c.21	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.050910	0.00002	.	.	ENSG00000214300	ENST00000332397	.	.	.	0.128	-0.256	0.12984	.	.	.	.	.	T	0.08179	0.0204	N	0.02802	-0.49	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25082	-1.0142	5	0.02654	T	1	.	.	.	.	.	.	.	.	H	7	.	ENSP00000329565:Q7H	Q	+	3	2	SPDYE3	99743465	0.251000	0.23961	0.004000	0.12327	0.004000	0.04260	-2.613000	0.00883	-2.508000	0.00506	-2.493000	0.00193	CAG	0	NULL		0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	protein_coding	OTTHUMT00000340224.2	222	20	0	0.00	0	0	G	NM_001004351	0	0		99905529	1	no_errors	ENST00000332397	ensembl	human	known	74_37	missense	144	31	28.36	22.50	57	9	SNP	0.005	T
LRCH4	4034	genome.wustl.edu	37	7	100176037	100176037	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100176037G>A	ENST00000310300.6	-	6	885	c.833C>T	c.(832-834)cCg>cTg	p.P278L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	278					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGAAACTCGGGGGCCGAGA	0.632																																							0											0													32.0	41.0	38.0					7																	100176037		2200	4295	6495	SO:0001583	missense	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.833C>T	7.37:g.100176037G>A	ENSP00000309689:p.Pro278Leu		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P278L	ENST00000310300.6	37	c.833	CCDS34706.1	7	.	.	.	.	.	.	.	.	.	.	g	13.89	2.372859	0.42105	.	.	ENSG00000077454	ENST00000310300	T	0.29917	1.55	5.19	4.3	0.51218	.	0.134831	0.50627	D	0.000115	T	0.19485	0.0468	L	0.34521	1.04	0.80722	D	1	B	0.17667	0.023	B	0.10450	0.005	T	0.03969	-1.0988	10	0.07175	T	0.84	-16.2064	10.818	0.46587	0.0917:0.0:0.9083:0.0	.	278	O75427	LRCH4_HUMAN	L	278	ENSP00000309689:P278L	ENSP00000309689:P278L	P	-	2	0	LRCH4	100013973	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	3.640000	0.54350	2.439000	0.82584	0.538000	0.68166	CCG	0	NULL		0.632	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	protein_coding	OTTHUMT00000356110.1	70	134	0	0.00	0	0	G	NM_002319	0	0		100176037	-1	no_errors	ENST00000310300	ensembl	human	known	74_37	missense	39	84	27.78	32.80	15	41	SNP	0.901	A
PCOLCE	5118	genome.wustl.edu	37	7	100205404	100205404	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100205404G>A	ENST00000223061.5	+	8	1437	c.1157G>A	c.(1156-1158)tGc>tAc	p.C386Y		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	386	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TACGTGCCTTGCAAGCAGTGC	0.517																																							0											0													119.0	114.0	115.0					7																	100205404		2203	4300	6503	SO:0001583	missense	0			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1157G>A	7.37:g.100205404G>A	ENSP00000223061:p.Cys386Tyr		B2R9E1|O14550	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.C386Y	ENST00000223061.5	37	c.1157	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897121	0.72639	.	.	ENSG00000106333	ENST00000223061	T	0.32023	1.47	4.42	4.42	0.53409	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.109416	0.64402	D	0.000005	T	0.51449	0.1675	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46803	-0.9165	10	0.33141	T	0.24	-18.7182	12.374	0.55269	0.0:0.0:1.0:0.0	.	386	Q15113	PCOC1_HUMAN	Y	386	ENSP00000223061:C386Y	ENSP00000223061:C386Y	C	+	2	0	PCOLCE	100043340	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.173000	0.71937	2.285000	0.76669	0.462000	0.41574	TGC	0	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.517	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	protein_coding	OTTHUMT00000345285.1	63	200	0	0.00	0	0	G	NM_002593	0	0		100205404	1	no_errors	ENST00000223061	ensembl	human	known	74_37	missense	19	169	34.48	28.09	10	66	SNP	1	A
GIGYF1	64599	genome.wustl.edu	37	7	100282727	100282727	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100282727G>A	ENST00000275732.5	-	11	2444	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	412					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGGCCAGCAGAGGAGCCCAC	0.597																																							0											0													16.0	18.0	17.0					7																	100282727		2193	4287	6480	SO:0001583	missense	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1235C>T	7.37:g.100282727G>A	ENSP00000275732:p.Ser412Phe		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.S412F	ENST00000275732.5	37	c.1235	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	13.10	2.135413	0.37728	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.82893	-1.66	4.87	4.87	0.63330	.	0.285942	0.33092	N	0.005297	T	0.64875	0.2638	N	0.08118	0	0.36836	D	0.887158	B	0.27732	0.187	B	0.26517	0.07	T	0.65183	-0.6230	10	0.09590	T	0.72	-6.9418	13.3781	0.60752	0.0:0.0:1.0:0.0	.	412	O75420	PERQ1_HUMAN	F	131;412	ENSP00000275732:S412F	ENSP00000275732:S412F	S	-	2	0	GIGYF1	100120663	1.000000	0.71417	0.616000	0.29078	0.202000	0.24057	5.421000	0.66447	2.539000	0.85634	0.462000	0.41574	TCT	0	NULL		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	protein_coding	OTTHUMT00000347205.2	62	55	0	0.00	0	0	G	NM_022574	0	0		100282727	-1	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	23	37	33.33	21.28	12	10	SNP	1	A
POLR2J	5439	genome.wustl.edu	37	7	102116666	102116666	+	Missense_Mutation	SNP	G	G	C	rs138574638		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:102116666G>C	ENST00000292614.5	-	2	151	c.105C>G	c.(103-105)atC>atG	p.I35M	POLR2J_ENST00000393794.3_Missense_Mutation_p.I35M	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	35					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|LRR domain binding (GO:0030275)			pancreas(2)	2						CTTCTTTGTTGATGGTGAATA	0.517																																							0											0													14.0	10.0	11.0					7																	102116666		1983	3760	5743	SO:0001583	missense	0			X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"""RNA polymerase subunits"""	9197	protein-coding gene	gene with protein product		604150	"""polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"""				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.105C>G	7.37:g.102116666G>C	ENSP00000292614:p.Ile35Met		A5D6V8|O43375	Missense_Mutation	SNP	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer	p.I35M	ENST00000292614.5	37	c.105	CCDS5724.1	7	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059227	0.55325	.	.	ENSG00000005075	ENST00000292614;ENST00000393794	D;D	0.94793	-3.52;-3.52	5.04	5.04	0.67666	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);DNA-directed RNA polymerase Rpb11, 13-16kDa subunit, conserved site (1);	0.062759	0.64402	D	0.000005	D	0.94466	0.8219	M	0.72894	2.215	0.44834	D	0.997843	P	0.36483	0.555	B	0.40982	0.345	D	0.94683	0.7867	10	0.54805	T	0.06	-29.9027	17.0235	0.86440	0.0:0.0:1.0:0.0	.	35	P52435	RPB11_HUMAN	M	35	ENSP00000292614:I35M;ENSP00000377383:I35M	ENSP00000292614:I35M	I	-	3	3	POLR2J	101903671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.567000	0.45956	2.359000	0.80004	0.650000	0.86243	ATC	0	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer		0.517	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2J	protein_coding	OTTHUMT00000317913.1	13	10	0	0.00	0	0	G	NM_006234	rs138574638	G->C		102116666	-1	no_errors	ENST00000393794	ensembl	human	known	74_37	missense	6	4	33.33	42.86	3	3	SNP	1	C
RELN	5649	genome.wustl.edu	37	7	103155797	103155797	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:103155797C>T	ENST00000428762.1	-	50	8113	c.7954G>A	c.(7954-7956)Gac>Aac	p.D2652N	RELN_ENST00000424685.2_Missense_Mutation_p.D2652N|RELN_ENST00000343529.5_Missense_Mutation_p.D2652N|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2652					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGGCCCAGTCGTTCTGATCC	0.542																																					NSCLC(146;835 1944 15585 22231 52158)		0											0													54.0	48.0	50.0					7																	103155797		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.7954G>A	7.37:g.103155797C>T	ENSP00000392423:p.Asp2652Asn		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D2652N	ENST00000428762.1	37	c.7954	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.471659	0.96274	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.26810	1.71;1.71;1.71	5.12	5.12	0.69794	Neuraminidase (2);	0.098264	0.64402	D	0.000002	T	0.34135	0.0887	N	0.21373	0.66	0.58432	D	0.999999	D;P	0.61697	0.99;0.754	P;B	0.57502	0.822;0.283	T	0.10894	-1.0610	10	0.59425	D	0.04	.	18.75	0.91810	0.0:1.0:0.0:0.0	.	2652;2652	P78509-2;P78509	.;RELN_HUMAN	N	2652;2652;2652;169;2652	ENSP00000392423:D2652N;ENSP00000345694:D2652N;ENSP00000388446:D2652N	ENSP00000345694:D2652N	D	-	1	0	RELN	102943033	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.276000	0.78559	2.647000	0.89833	0.643000	0.83706	GAC	0	superfamily_Sialidases		0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	37	124	0	0.00	0	0	C	NM_005045	0	0		103155797	-1	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	10	82	44.44	32.52	8	40	SNP	1	T
KCND2	3751	genome.wustl.edu	37	7	120373118	120373118	+	Splice_Site	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:120373118A>G	ENST00000331113.4	+	2	2242	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	426					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGGGCACAAAAGGTGCGTATT	0.438																																							0											0													153.0	129.0	137.0					7																	120373118		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1278+1A>G	7.37:g.120373118A>G			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.K426R	ENST00000331113.4	37	c.1277	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817128	0.32145	.	.	ENSG00000184408	ENST00000331113	D	0.96856	-4.15	5.57	5.57	0.84162	.	0.061993	0.64402	D	0.000005	D	0.93514	0.7930	L	0.43152	1.355	0.34558	D	0.712031	B	0.22851	0.076	B	0.23852	0.049	D	0.93426	0.6781	9	.	.	.	.	14.2755	0.66177	1.0:0.0:0.0:0.0	.	426	Q9NZV8	KCND2_HUMAN	R	426	ENSP00000333496:K426R	.	K	+	2	0	KCND2	120160354	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	4.526000	0.60566	2.248000	0.74166	0.533000	0.62120	AAG	0	prints_K_chnl_volt-dep_Kv4		0.438	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	protein_coding	OTTHUMT00000346996.1	38	208	0	0.00	0	0	A	NM_012281	0	0	Missense_Mutation	120373118	1	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	34	176	22.73	24.46	10	57	SNP	1	G
CPED1	79974	genome.wustl.edu	37	7	120740103	120740103	+	Silent	SNP	G	G	A	rs798937	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:120740103G>A	ENST00000310396.5	+	7	1340	c.873G>A	c.(871-873)acG>acA	p.T291T	CPED1_ENST00000423795.1_Silent_p.T71T|CPED1_ENST00000450913.2_Silent_p.T291T	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	291						endoplasmic reticulum (GO:0005783)											TTCATTCGACGGGCACAGTTT	0.418																																							0											0													147.0	127.0	134.0					7																	120740103		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.873G>A	7.37:g.120740103G>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.T291	ENST00000310396.5	37	c.873	CCDS34739.1	7																																																																																			0	NULL		0.418	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	protein_coding	OTTHUMT00000346959.1	97	229	0	0.00	0	0	G	NM_024913	0	0		120740103	1	no_errors	ENST00000310396	ensembl	human	known	74_37	silent	47	187	29.85	33.45	20	94	SNP	0.987	A
RNF133	168433	genome.wustl.edu	37	7	122338557	122338557	+	Missense_Mutation	SNP	A	A	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:122338557A>C	ENST00000340112.2	-	1	653	c.416T>G	c.(415-417)gTg>gGg	p.V139G	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	139	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CATGGGGAACACCTGGTTGCC	0.433																																					Colon(198;1778 2057 7449 19869 45985)		0											0													114.0	107.0	109.0					7																	122338557		2203	4299	6502	SO:0001583	missense	0			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.416T>G	7.37:g.122338557A>C	ENSP00000344489:p.Val139Gly		A4D0W2|Q8N7G7	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V139G	ENST00000340112.2	37	c.416	CCDS5784.1	7	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061259	0.55432	.	.	ENSG00000188050	ENST00000340112	T	0.06142	3.34	5.62	5.62	0.85841	Protease-associated domain, PA (1);	0.294083	0.28589	N	0.014807	T	0.15176	0.0366	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.17137	-1.0379	10	0.20046	T	0.44	.	6.1411	0.20261	0.7796:0.0:0.0763:0.1441	.	139	Q8WVZ7	RN133_HUMAN	G	139	ENSP00000344489:V139G	ENSP00000344489:V139G	V	-	2	0	RNF133	122125793	0.425000	0.25498	0.993000	0.49108	0.995000	0.86356	3.324000	0.52022	2.137000	0.66172	0.459000	0.35465	GTG	0	pfam_Protease-assoc_domain		0.433	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	protein_coding	OTTHUMT00000347413.1	56	232	0	0.00	0	0	A	NM_139175	0	0		122338557	-1	no_errors	ENST00000340112	ensembl	human	known	74_37	missense	25	185	35.9	33.69	14	94	SNP	0.988	C
SND1	27044	genome.wustl.edu	37	7	127727080	127727080	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:127727080G>A	ENST00000354725.3	+	21	2589	c.2395G>A	c.(2395-2397)Gcc>Acc	p.A799T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	799					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GTATGCCTTCGCCTTCATCCA	0.597																																							0											0													111.0	85.0	94.0					7																	127727080		2203	4300	6503	SO:0001583	missense	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2395G>A	7.37:g.127727080G>A	ENSP00000346762:p.Ala799Thr		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.A799T	ENST00000354725.3	37	c.2395	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.632062	0.96682	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.35048	1.33	5.96	5.96	0.96718	Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.105068	0.64402	D	0.000004	T	0.69700	0.3140	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.77146	-0.2695	10	0.87932	D	0	-20.3462	15.9221	0.79583	0.0:0.0:1.0:0.0	.	799	Q7KZF4	SND1_HUMAN	T	799;789	ENSP00000346762:A799T	ENSP00000346762:A799T	A	+	1	0	SND1	127514316	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.052000	0.93855	2.832000	0.97577	0.655000	0.94253	GCC	0	superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN		0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	protein_coding	OTTHUMT00000349148.1	17	119	0	0.00	0	0	G	NM_014390	0	0		127727080	1	no_errors	ENST00000354725	ensembl	human	known	74_37	missense	10	79	29.41	27.52	5	30	SNP	1	A
PODXL	5420	genome.wustl.edu	37	7	131195725	131195725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:131195725G>A	ENST00000378555.3	-	2	815	c.568C>T	c.(568-570)Cga>Tga	p.R190*	PODXL_ENST00000537928.1_Nonsense_Mutation_p.R190*|PODXL_ENST00000541194.1_Nonsense_Mutation_p.R192*|PODXL_ENST00000322985.9_Nonsense_Mutation_p.R190*|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	190	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTGGGTTGTCGGGGGCTAAGT	0.537																																							0											0													232.0	202.0	212.0					7																	131195725		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.568C>T	7.37:g.131195725G>A	ENSP00000367817:p.Arg190*		A6NHX8|Q52LZ7|Q53ER6	Nonsense_Mutation	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.R192*	ENST00000378555.3	37	c.574	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354423	0.41700	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	.	.	.	3.06	-6.12	0.02124	.	123.755000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	6.9926	1.3972	0.02263	0.1168:0.2138:0.2606:0.4087	.	.	.	.	X	192;190;180;190;190	.	ENSP00000319782:R190X	R	-	1	2	PODXL	130846265	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.721000	0.00384	-8.266000	0.00000	-3.623000	0.00027	CGA	0	pirsf_Podocalyxin-like_p1		0.537	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	protein_coding	OTTHUMT00000337627.2	66	152	0	0.00	0	0	G	NM_001018111	0	0		131195725	-1	no_errors	ENST00000541194	ensembl	human	known	74_37	nonsense	30	135	37.5	29.69	18	57	SNP	0	A
PRSS1	5644	genome.wustl.edu	37	7	142459791	142459791	+	Missense_Mutation	SNP	G	G	A	rs144403091		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:142459791G>A	ENST00000311737.7	+	3	373	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	PRSS1_ENST00000486171.1_Missense_Mutation_p.V137M	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	123	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CAACGCCCGCGTGTCCACCAT	0.587																																							0											0			GRCh37	CM011004	PRSS1	M	rs144403091	G	MET/VAL	0,4406		0,0,2203	140.0	132.0	135.0		367	3.3	0.1	7	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRSS1	NM_002769.4	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	123/248	142459791	1,13005	2203	4300	6503	SO:0001583	missense	0			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.367G>A	7.37:g.142459791G>A	ENSP00000308720:p.Val123Met		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V123M	ENST00000311737.7	37	c.367	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895251	0.33442	0.0	1.16E-4	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.92048	-2.96;-2.96;-2.96	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.113083	0.64402	D	0.000016	D	0.96185	0.8756	M	0.92459	3.31	0.34727	D	0.729335	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.97760	1.0220	10	0.87932	D	0	.	9.1627	0.37032	0.1181:0.0:0.8819:0.0	.	137;123	E7EQ64;P07477	.;TRY1_HUMAN	M	137;123;113;73	ENSP00000417854:V137M;ENSP00000308720:V123M;ENSP00000419912:V73M	ENSP00000308720:V123M	V	+	1	0	PRSS1	142139365	1.000000	0.71417	0.061000	0.19648	0.003000	0.03518	4.787000	0.62432	1.789000	0.52484	0.398000	0.26397	GTG	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.587	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	45	149	0	0.00	0	0	G		rs144403091	G->A		142459791	1	no_errors	ENST00000311737	ensembl	human	known	74_37	missense	20	99	48.72	31.25	19	45	SNP	0.698	A
ZNF783	100289678	genome.wustl.edu	37	7	148963535	148963535	+	Missense_Mutation	SNP	C	C	T	rs570103600	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:148963535C>T	ENST00000434415.1	+	2	297	c.134C>T	c.(133-135)aCg>aTg	p.T45M		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T45M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACACTGTGGACGGTGGTGGCC	0.597													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15884	0.0		0.0	False		,,,				2504	0.0						0.9996,0.0003994											1	Substitution - Missense(1)	large_intestine(1)											33.0	37.0	35.0					7																	148963535		2203	4300	6503	SO:0001583	missense	0			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.134C>T	7.37:g.148963535C>T	ENSP00000410890:p.Thr45Met		C9J9J2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.T45M	ENST00000434415.1	37	c.134	CCDS56519.1	7	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697392	0.68386	.	.	ENSG00000204946	ENST00000434415	T	0.24151	1.87	4.87	4.87	0.63330	.	0.000000	0.33980	N	0.004363	T	0.39226	0.1070	L	0.55834	1.745	0.80722	D	1	.	.	.	.	.	.	T	0.21586	-1.0241	8	0.87932	D	0	-5.772	13.5053	0.61481	0.0:1.0:0.0:0.0	.	.	.	.	M	45	ENSP00000410890:T45M	ENSP00000367291:T45M	T	+	2	0	ZNF783	148594468	0.960000	0.32886	0.952000	0.39060	0.993000	0.82548	2.191000	0.42640	2.260000	0.74910	0.655000	0.94253	ACG	0	pfam_DUF3669_Znf		0.597	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF783	protein_coding	OTTHUMT00000352715.1	23	106	0	0.93	0	1	C	NM_001195220	rs570103600	C->T		148963535	1	no_errors	ENST00000434415	ensembl	human	known	74_37	missense	11	61	42.11	29.89	8	26	SNP	0.974	T
SSPO	23145	genome.wustl.edu	37	7	149488498	149488498	+	RNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:149488498G>A	ENST00000378016.2	+	0	5013							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGAGTGGGTGGAGGAGGC	0.657																																							0											0													24.0	28.0	27.0					7																	149488498		1993	4143	6136			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149488498G>A			Q76B61	RNA	SNP	0	NULL	ENST00000378016.2	37	NULL		7																																																																																			0	0		0.657	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		36	58	0	0.00	0	0	G		0	0		149488498	1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	20	52	32.26	32.47	10	25	SNP	0.004	A
NOS3	4846	genome.wustl.edu	37	7	150698994	150698994	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:150698994C>T	ENST00000484524.1	+	12	1588	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	NOS3_ENST00000297494.3_Missense_Mutation_p.R530W|NOS3_ENST00000461406.1_Missense_Mutation_p.R324W|NOS3_ENST00000467517.1_Missense_Mutation_p.R530W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGACCGGCCGGGCCCAGAG	0.647																																							0											0													42.0	45.0	44.0					7																	150698994		2203	4300	6503	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1588C>T	7.37:g.150698994C>T	ENSP00000420215:p.Arg530Trp		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R530W	ENST00000484524.1	37	c.1588	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088506	0.76756	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.000000	0.49916	D	0.000138	T	0.82098	0.4963	L	0.58810	1.83	0.45307	D	0.998305	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.76071	0.983;0.987;0.987;0.985;0.978	D	0.83410	0.0027	10	0.87932	D	0	-35.7207	10.9263	0.47193	0.1872:0.8128:0.0:0.0	.	530;530;530;324;530	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	530;324;530;530	ENSP00000297494:R530W;ENSP00000417143:R324W;ENSP00000420215:R530W;ENSP00000420551:R530W	ENSP00000297494:R530W	R	+	1	2	NOS3	150329927	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.005000	0.57075	2.376000	0.81061	0.655000	0.94253	CGG	0	pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin		0.647	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	protein_coding	OTTHUMT00000351550.1	34	92	0	0.00	0	0	C	NM_000603	0	0		150698994	1	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	17	55	37.04	26.67	10	20	SNP	1	T
HTR5A	3361	genome.wustl.edu	37	7	154863229	154863229	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:154863229G>A	ENST00000287907.2	+	1	1196	c.620G>A	c.(619-621)gGc>gAc	p.G207D	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	207					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TCCACCGTAGGCGCCTTCTAC	0.607																																							0											0													77.0	68.0	71.0					7																	154863229		2203	4300	6503	SO:0001583	missense	0				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.620G>A	7.37:g.154863229G>A	ENSP00000287907:p.Gly207Asp		Q2M2D2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt	p.G207D	ENST00000287907.2	37	c.620	CCDS5936.1	7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879042	0.91740	.	.	ENSG00000157219	ENST00000287907	T	0.37915	1.17	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.048625	0.85682	D	0.000000	T	0.70011	0.3175	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.79308	-0.1857	10	0.66056	D	0.02	.	18.0029	0.89202	0.0:0.0:1.0:0.0	.	207	P47898	5HT5A_HUMAN	D	207	ENSP00000287907:G207D	ENSP00000287907:G207D	G	+	2	0	HTR5A	154494162	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.309000	0.78937	2.489000	0.83994	0.655000	0.94253	GGC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	protein_coding	OTTHUMT00000322240.1	34	102	0	0.00	0	0	G	NM_024012	0	0		154863229	1	no_errors	ENST00000287907	ensembl	human	known	74_37	missense	16	94	32	27.48	8	36	SNP	1	A
VIPR2	7434	genome.wustl.edu	37	7	158824739	158824739	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:158824739G>A	ENST00000262178.2	-	11	1176	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	VIPR2_ENST00000402066.1_Missense_Mutation_p.L472F|VIPR2_ENST00000377633.3_Missense_Mutation_p.L315F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	331					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATAAGCAGGAGCGTGGACTTG	0.592																																					Pancreas(154;1876 1931 2329 17914 20079)		0											0													79.0	77.0	78.0					7																	158824739		2203	4300	6503	SO:0001583	missense	0			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.991C>T	7.37:g.158824739G>A	ENSP00000262178:p.Leu331Phe		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.L331F	ENST00000262178.2	37	c.991	CCDS5950.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966160	0.74131	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.53423	0.62;0.62;0.62	5.22	3.39	0.38822	GPCR, family 2-like (1);	0.000000	0.41500	D	0.000870	T	0.70439	0.3224	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74621	-0.3604	9	.	.	.	.	9.2584	0.37597	0.177:0.0:0.823:0.0	.	331	P41587	VIPR2_HUMAN	F	331;315;472	ENSP00000262178:L331F;ENSP00000366860:L315F;ENSP00000384497:L472F	.	L	-	1	0	VIPR2	158517500	1.000000	0.71417	0.860000	0.33809	0.679000	0.39708	3.679000	0.54634	1.342000	0.45619	0.491000	0.48974	CTC	0	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.592	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR2	protein_coding	OTTHUMT00000322675.1	17	97	0	0.00	0	0	G	NM_003382	0	0		158824739	-1	no_errors	ENST00000262178	ensembl	human	known	74_37	missense	19	75	24	25.00	6	25	SNP	0.992	A
XKR6	286046	genome.wustl.edu	37	8	10756220	10756220	+	Missense_Mutation	SNP	C	C	T	rs377188885		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:10756220C>T	ENST00000416569.2	-	3	1194	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	XKR6_ENST00000304437.2_Missense_Mutation_p.V111M	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	390						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGAACCACCACGAAGATCCCA	0.532																																							0											0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	96.0	90.0	92.0		1168	3.3	1.0	8		92	0,8600		0,0,4300	no	missense	XKR6	NM_173683.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	390/642	10756220	1,13005	2203	4300	6503	SO:0001583	missense	0			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1168G>A	8.37:g.10756220C>T	ENSP00000416707:p.Val390Met		Q8TBA0	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.V390M	ENST00000416569.2	37	c.1168	CCDS5978.2	8	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040689	0.55003	2.27E-4	0.0	ENSG00000171044	ENST00000304437;ENST00000416569	T;T	0.64618	-0.11;-0.11	5.23	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	L	0.47716	1.5	0.47547	D	0.999456	D	0.55800	0.973	P	0.51945	0.685	T	0.65063	-0.6259	10	0.46703	T	0.11	-1.9492	12.9284	0.58272	0.2941:0.7059:0.0:0.0	.	390	Q5GH73	XKR6_HUMAN	M	111;390	ENSP00000307120:V111M;ENSP00000416707:V390M	ENSP00000307120:V111M	V	-	1	0	XKR6	10793630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	1.164000	0.42652	0.561000	0.74099	GTG	0	pfam_Transport_prot_XK		0.532	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR6	protein_coding	OTTHUMT00000383958.1	29	125	0	0.00	0	0	C	NM_173683	rs377188885	C->T		10756220	-1	no_errors	ENST00000416569	ensembl	human	known	74_37	missense	17	101	41.38	33.99	12	52	SNP	1	T
CSGALNACT1	55790	genome.wustl.edu	37	8	19277874	19277874	+	Missense_Mutation	SNP	G	G	A	rs34492215	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:19277874G>A	ENST00000454498.2	-	7	2122	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.T370M|CSGALNACT1_ENST00000518542.1_5'Flank|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.T370M|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.T370M|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.T370M	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	370					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.T370M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CAGCCTACACGTATTGAGGAA	0.527													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		20721	0.0		0.0	False		,,,				2504	0.0						0.9996,0.0003994											1	Substitution - Missense(1)	endometrium(1)						G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	134.0	116.0	122.0		1109,1109	5.2	0.5	8	dbSNP_126	122	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CSGALNACT1	NM_001130518.1,NM_018371.4	81,81	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	370/533,370/533	19277874	3,13003	2203	4300	6503	SO:0001583	missense	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1109C>T	8.37:g.19277874G>A	ENSP00000411816:p.Thr370Met		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.T370M	ENST00000454498.2	37	c.1109	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299775	0.81136	4.54E-4	1.16E-4	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.16	5.16	0.70880	.	0.149109	0.64402	D	0.000012	T	0.39200	0.1069	M	0.65975	2.015	0.58432	D	0.999995	D	0.65815	0.995	P	0.62382	0.901	T	0.21586	-1.0241	10	0.87932	D	0	-27.4645	17.2057	0.86917	0.0:0.0:1.0:0.0	rs34492215	370	Q8TDX6	CGAT1_HUMAN	M	370	ENSP00000411816:T370M;ENSP00000330805:T370M;ENSP00000310891:T370M;ENSP00000429809:T370M;ENSP00000442155:T370M	ENSP00000310891:T370M	T	-	2	0	CSGALNACT1	19322154	1.000000	0.71417	0.521000	0.27850	0.821000	0.46438	7.633000	0.83260	2.414000	0.81942	0.561000	0.74099	ACG	0	pfam_Chond_GalNAc		0.527	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	protein_coding	OTTHUMT00000375204.1	55	122	0	0.00	0	0	G	NM_018371	rs34492215	G->A		19277874	-1	no_errors	ENST00000311540	ensembl	human	known	74_37	missense	37	123	27.45	20.65	14	32	SNP	0.97	A
PPP2R2A	5520	genome.wustl.edu	37	8	26227708	26227708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:26227708C>T	ENST00000380737.3	+	10	1452	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	PPP2R2A_ENST00000315985.7_Nonsense_Mutation_p.R385*	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	375					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		AAACACAAAGCGAGACATAAC	0.413																																							0											0													78.0	73.0	75.0					8																	26227708		2203	4300	6503	SO:0001587	stop_gained	0			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1123C>T	8.37:g.26227708C>T	ENSP00000370113:p.Arg375*		B2RBU8|B4E1T7|P50409|Q00007	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.R375*	ENST00000380737.3	37	c.1123	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641997	0.87859	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	.	.	.	5.11	5.11	0.69529	.	0.173062	0.39475	U	0.001355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.06	19.0939	0.93242	0.0:1.0:0.0:0.0	.	.	.	.	X	375;154;385	.	ENSP00000325074:R385X	R	+	1	2	PPP2R2A	26283625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.421000	0.66447	2.816000	0.96949	0.561000	0.74099	CGA	0	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	protein_coding	OTTHUMT00000375954.2	58	263	0	0.00	0	0	C	NM_002717	0	0		26227708	1	no_errors	ENST00000380737	ensembl	human	known	74_37	nonsense	54	219	19.4	28.90	13	89	SNP	1	T
PPP2R2A	5520	genome.wustl.edu	37	8	26227751	26227751	+	Missense_Mutation	SNP	G	G	A	rs369862992		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:26227751G>A	ENST00000380737.3	+	10	1495	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.R399H	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	389					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R389H(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		AATAAGCCTCGCACAGTTCTG	0.413																																							0											1	Substitution - Missense(1)	large_intestine(1)						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	75.0	76.0		1196,1166	4.4	1.0	8		76	0,8600		0,0,4300	no	missense,missense	PPP2R2A	NM_001177591.1,NM_002717.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	399/458,389/448	26227751	1,13005	2203	4300	6503	SO:0001583	missense	0			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1166G>A	8.37:g.26227751G>A	ENSP00000370113:p.Arg389His		B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.R389H	ENST00000380737.3	37	c.1166	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345085	0.24426	2.27E-4	0.0	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.46451	1.46;0.87;1.46	5.25	4.38	0.52667	WD40 repeat-like-containing domain (1);	0.267600	0.30392	U	0.009723	T	0.36468	0.0968	M	0.62154	1.92	0.40672	D	0.982222	B;B;P	0.43607	0.002;0.005;0.812	B;B;B	0.31812	0.001;0.005;0.136	T	0.42344	-0.9457	10	0.42905	T	0.14	-31.0147	14.2581	0.66065	0.0714:0.0:0.9285:0.0	.	399;389;390	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	H	389;168;399	ENSP00000370113:R389H;ENSP00000430320:R168H;ENSP00000325074:R399H	ENSP00000325074:R399H	R	+	2	0	PPP2R2A	26283668	0.996000	0.38824	1.000000	0.80357	0.865000	0.49528	4.218000	0.58554	1.587000	0.49959	-0.136000	0.14681	CGC	0	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	protein_coding	OTTHUMT00000375954.2	86	223	0	0.45	0	1	G	NM_002717	rs369862992	G->A		26227751	1	no_errors	ENST00000380737	ensembl	human	known	74_37	missense	60	171	25.93	34.48	21	90	SNP	0.999	A
NRG1	3084	genome.wustl.edu	37	8	32621338	32621338	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:32621338G>A	ENST00000405005.3	+	12	1341	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S	RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000338921.4_Silent_p.S455S|NRG1_ENST00000539990.1_Silent_p.S290S|NRG1_ENST00000356819.4_Silent_p.S452S|NRG1_ENST00000287845.5_Silent_p.S418S|NRG1_ENST00000519301.1_Silent_p.S397S|NRG1_ENST00000287842.3_Silent_p.S444S|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	447					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCCCCAAATCGCCCCCTTCGG	0.557																																							0											0													108.0	106.0	106.0					8																	32621338		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1341G>A	8.37:g.32621338G>A			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.S455	ENST00000405005.3	37	c.1365	CCDS6085.1	8																																																																																			0	pfam_Neuregulin_1_C		0.557	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	protein_coding	OTTHUMT00000472504.1	36	189	0	0.00	0	0	G		0	0		32621338	1	no_errors	ENST00000338921	ensembl	human	known	74_37	silent	23	152	39.47	34.20	15	79	SNP	0.355	A
IDO2	169355	genome.wustl.edu	37	8	39847306	39847306	+	Nonsense_Mutation	SNP	C	C	T	rs199869245	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:39847306C>T	ENST00000389060.4	+	7	616	c.616C>T	c.(616-618)Cga>Tga	p.R206*	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Nonsense_Mutation_p.R219*			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	206					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AGCCCTGCAGCGACTGAGACT	0.537											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0015	0.0	5008	,	,		20339	0.0		0.0	False		,,,				2504	0.0						0.9996,0.0003994											0								C	stop/ARG	4,4032		0,4,2014	70.0	70.0	70.0		655	4.8	0.9	8		70	2,8390		0,2,4194	yes	stop-gained	IDO2	NM_194294.2		0,6,6208	TT,TC,CC		0.0238,0.0991,0.0483		219/421	39847306	6,12422	2018	4196	6214	SO:0001587	stop_gained	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.616C>T	8.37:g.39847306C>T	ENSP00000426447:p.Arg206*	889	A4UD41	Nonsense_Mutation	SNP	pfam_Indolamine_dOase	p.R219*	ENST00000389060.4	37	c.655		8	.	.	.	.	.	.	.	.	.	.	C	35	5.548107	0.96488	9.91E-4	2.38E-4	ENSG00000188676	ENST00000502986;ENST00000389060	.	.	.	5.67	4.78	0.61160	.	1.816400	0.02650	N	0.106267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5321	0.56122	0.0:0.8323:0.1677:0.0	.	.	.	.	X	219;206	.	.	R	+	1	2	IDO2	39966463	0.323000	0.24643	0.871000	0.34182	0.665000	0.39181	0.507000	0.22675	1.356000	0.45884	0.467000	0.42956	CGA	0	pfam_Indolamine_dOase		0.537	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	protein_coding	OTTHUMT00000372742.1	27	110	0	0.00	0	0	C	NM_194294	rs199869245	C->T		39847306	1	no_errors	ENST00000502986	ensembl	human	known	74_37	nonsense	18	106	30.77	23.02	8	32	SNP	0.947	T
PRKDC	5591	genome.wustl.edu	37	8	48805844	48805844	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:48805844G>A	ENST00000314191.2	-	31	3758	c.3702C>T	c.(3700-3702)ggC>ggT	p.G1234G	PRKDC_ENST00000338368.3_Silent_p.G1234G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1234					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGGCCAGGATGCCCGAGGGCT	0.582								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)		0											0													29.0	31.0	30.0					8																	48805844		1905	4110	6015	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3702C>T	8.37:g.48805844G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1234	ENST00000314191.2	37	c.3702		8																																																																																			0	NULL		0.582	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		94	25	0	0.00	0	0	G	NM_001081640	0	0		48805844	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	40	40	28.57	24.53	16	13	SNP	0.997	A
PRKDC	5591	genome.wustl.edu	37	8	48811087	48811087	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:48811087C>T	ENST00000314191.2	-	29	3463	c.3407G>A	c.(3406-3408)cGc>cAc	p.R1136H	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1136H|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1136			R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.R1136H(3)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTCAATGATGCGGCATAGGTG	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)		0											3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)											86.0	82.0	83.0					8																	48811087		1871	4109	5980	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3407G>A	8.37:g.48811087C>T	ENSP00000313420:p.Arg1136His		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1136H	ENST00000314191.2	37	c.3407		8	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194656	0.58017	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.66815	-0.23;-0.23	5.46	1.67	0.24075	Armadillo-like helical (1);Armadillo-type fold (1);	0.186759	0.45606	N	0.000344	T	0.51193	0.1660	.	.	.	0.51012	D	0.999902	B;B	0.32160	0.239;0.358	B;B	0.25884	0.064;0.064	T	0.42899	-0.9424	9	0.66056	D	0.02	.	6.8369	0.23941	0.1251:0.6792:0.0:0.1957	.	1136;1136	E7EUY0;P78527	.;PRKDC_HUMAN	H	1136	ENSP00000313420:R1136H;ENSP00000345182:R1136H	ENSP00000313420:R1136H	R	-	2	0	PRKDC	48973640	1.000000	0.71417	0.702000	0.30337	0.973000	0.67179	2.096000	0.41738	0.028000	0.15324	0.557000	0.71058	CGC	0	superfamily_ARM-type_fold		0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		50	201	0	0.00	0	0	C	NM_001081640	0	0		48811087	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	28	169	28.21	28.09	11	66	SNP	1	T
C8orf46	254778	genome.wustl.edu	37	8	67422332	67422332	+	Splice_Site	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:67422332G>T	ENST00000305454.3	+	4	723	c.282G>T	c.(280-282)gtG>gtT	p.V94V	C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000521495.1_Splice_Site_p.V94V|C8orf46_ENST00000480005.1_Splice_Site_p.V94V|C8orf46_ENST00000522977.1_Intron	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	94										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ACATTGCAGTGGGGATTTCTG	0.438																																							0											0													149.0	131.0	137.0					8																	67422332		2203	4300	6503	SO:0001630	splice_region_variant	0			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.281-1G>T	8.37:g.67422332G>T			B2RDC3|B4DFU4|C9J814|C9JCS3	Silent	SNP	NULL	p.V94	ENST00000305454.3	37	c.282	CCDS6191.2	8																																																																																			0	NULL		0.438	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	protein_coding	OTTHUMT00000347010.1	56	237	0	0.84	0	2	G	NM_152765	0	0	Silent	67422332	1	no_errors	ENST00000305454	ensembl	human	known	74_37	silent	54	196	26.03	33.56	19	99	SNP	0.992	T
ZFHX4	79776	genome.wustl.edu	37	8	77775727	77775727	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:77775727C>T	ENST00000521891.2	+	11	10225	c.9777C>T	c.(9775-9777)ggC>ggT	p.G3259G	ZFHX4_ENST00000455469.2_Silent_p.G3214G|ZFHX4_ENST00000518282.1_Silent_p.G3233G|ZFHX4_ENST00000050961.6_Silent_p.G3210G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTTTATAGGCGGACAGTTCT	0.478										HNSCC(33;0.089)																													0											0													161.0	153.0	156.0					8																	77775727		1898	4119	6017	SO:0001819	synonymous_variant	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.9777C>T	8.37:g.77775727C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G3259	ENST00000521891.2	37	c.9777	CCDS47878.2	8																																																																																			0	NULL		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	36	245	0	0.00	0	0	C	NM_024721	0	0		77775727	1	no_errors	ENST00000521891	ensembl	human	known	74_37	silent	23	217	17.86	25.43	5	74	SNP	0.998	T
KCNS2	3788	genome.wustl.edu	37	8	99440317	99440317	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:99440317G>A	ENST00000287042.4	+	2	460	c.110G>A	c.(109-111)cGc>cAc	p.R37H	KCNS2_ENST00000521839.1_Missense_Mutation_p.R37H	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	37					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACGCTGCTGCGCTTCCCCGAG	0.657																																					Pancreas(138;844 2489 9202 24627)		0											0													45.0	41.0	42.0					8																	99440317		2203	4300	6503	SO:0001583	missense	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.110G>A	8.37:g.99440317G>A	ENSP00000287042:p.Arg37His		A8KAN1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.R37H	ENST00000287042.4	37	c.110	CCDS6279.1	8	.	.	.	.	.	.	.	.	.	.	g	22.4	4.290954	0.80914	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.137776	0.49305	D	0.000157	T	0.73473	0.3591	M	0.87038	2.855	0.44142	D	0.996938	D	0.89917	1.0	D	0.68353	0.957	T	0.78755	-0.2080	10	0.87932	D	0	.	18.7928	0.91982	0.0:0.0:1.0:0.0	.	37	Q9ULS6	KCNS2_HUMAN	H	37	ENSP00000287042:R37H;ENSP00000430712:R37H	ENSP00000287042:R37H	R	+	2	0	KCNS2	99509493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.755000	0.74914	2.523000	0.85059	0.558000	0.71614	CGC	0	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.657	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	protein_coding	OTTHUMT00000103134.1	36	25	0	0.00	0	0	G	NM_020697	0	0		99440317	1	no_errors	ENST00000287042	ensembl	human	known	74_37	missense	17	22	34.62	21.43	9	6	SNP	1	A
FBXO43	286151	genome.wustl.edu	37	8	101154178	101154178	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:101154178T>G	ENST00000428847.2	-	2	620	c.304A>C	c.(304-306)Aca>Cca	p.T102P		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	102					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TAGAGTAATGTTGGGCCTTTT	0.353																																							0											0													84.0	78.0	80.0					8																	101154178		1811	4071	5882	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.304A>C	8.37:g.101154178T>G	ENSP00000403293:p.Thr102Pro			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.T102P	ENST00000428847.2	37	c.304	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	T	6.996	0.553959	0.13374	.	.	ENSG00000156509	ENST00000428847	T	0.30182	1.54	5.12	-10.2	0.00374	.	1.855210	0.01854	N	0.036163	T	0.21550	0.0519	L	0.51422	1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17379	-1.0371	10	0.52906	T	0.07	2.2534	2.9405	0.05829	0.1468:0.3888:0.2816:0.1827	.	68;102	C9J908;Q4G163	.;FBX43_HUMAN	P	102	ENSP00000403293:T102P	ENSP00000403293:T102P	T	-	1	0	FBXO43	101223354	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.844000	0.04345	-1.892000	0.01108	-1.371000	0.01190	ACA	0	NULL		0.353	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	protein_coding	OTTHUMT00000380380.1	53	151	0	0.00	0	0	T	XM_209918	0	0		101154178	-1	no_errors	ENST00000428847	ensembl	human	known	74_37	missense	38	143	28.3	31.10	15	65	SNP	0	G
SPAG1	6674	genome.wustl.edu	37	8	101232550	101232550	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:101232550C>T	ENST00000388798.2	+	13	1770	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	SPAG1_ENST00000523302.1_Intron|SPAG1_ENST00000251809.3_Missense_Mutation_p.R527W	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	527					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCTTCTGAGGCGGGCGATGGC	0.398																																							0											0													130.0	122.0	125.0					8																	101232550		2203	4300	6503	SO:0001583	missense	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1579C>T	8.37:g.101232550C>T	ENSP00000373450:p.Arg527Trp		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R527W	ENST00000388798.2	37	c.1579	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218878	0.79464	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.68025	-0.3;-0.3	5.45	4.55	0.56014	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88461	0.3055	10	0.72032	D	0.01	-10.9	14.9957	0.71431	0.1438:0.8562:0.0:0.0	.	527	Q07617	SPAG1_HUMAN	W	527	ENSP00000251809:R527W;ENSP00000373450:R527W	ENSP00000251809:R527W	R	+	1	2	SPAG1	101301726	0.957000	0.32711	0.971000	0.41717	0.768000	0.43524	2.159000	0.42339	1.248000	0.43934	0.655000	0.94253	CGG	0	smart_TPR_repeat,pfscan_TPR-contain_dom		0.398	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	protein_coding	OTTHUMT00000379853.2	99	271	0	0.36	0	1	C	NM_172218	0	0		101232550	1	no_errors	ENST00000251809	ensembl	human	known	74_37	missense	52	228	35	31.12	28	103	SNP	1	T
UTP23	84294	genome.wustl.edu	37	8	117782507	117782507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:117782507C>T	ENST00000309822.2	+	2	366	c.265C>T	c.(265-267)Cga>Tga	p.R89*	UTP23_ENST00000520733.1_5'UTR|UTP23_ENST00000357148.3_Nonsense_Mutation_p.R89*|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	89					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						ATGCCAAGTTCGAAATTGTCC	0.378																																							0											0													120.0	110.0	114.0					8																	117782507		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.265C>T	8.37:g.117782507C>T	ENSP00000308332:p.Arg89*		B2RE25|Q96NJ8	Nonsense_Mutation	SNP	pfam_Fcf1/Utp23	p.R89*	ENST00000309822.2	37	c.265	CCDS6320.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.278129	0.97435	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814	.	.	.	5.9	5.02	0.67125	.	0.107041	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0095	14.1616	0.65450	0.2726:0.7274:0.0:0.0	.	.	.	.	X	89	.	ENSP00000308332:R89X	R	+	1	2	UTP23	117851688	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.669000	0.37492	1.478000	0.48253	0.650000	0.86243	CGA	0	pfam_Fcf1/Utp23		0.378	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP23	protein_coding	OTTHUMT00000381173.1	95	275	0	0.00	0	0	C	NM_032334	0	0		117782507	1	no_errors	ENST00000309822	ensembl	human	known	74_37	nonsense	54	208	22.86	27.34	16	79	SNP	1	T
FAM83A	84985	genome.wustl.edu	37	8	124219588	124219588	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:124219588G>A	ENST00000518448.1	+	5	2979	c.965G>A	c.(964-966)aGc>aAc	p.S322N	FAM83A_ENST00000276699.6_Missense_Mutation_p.S322N|FAM83A_ENST00000318462.6_Missense_Mutation_p.S322N|FAM83A_ENST00000522648.1_Missense_Mutation_p.S266N|FAM83A_ENST00000546351.1_Missense_Mutation_p.S266N|FAM83A_ENST00000536633.1_Missense_Mutation_p.S322N			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	322	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTAGCAGCAGCAGTGGCTCC	0.716																																							0											0													14.0	16.0	15.0					8																	124219588		2196	4286	6482	SO:0001583	missense	0			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.965G>A	8.37:g.124219588G>A	ENSP00000428876:p.Ser322Asn		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	pfam_DUF1669	p.S322N	ENST00000518448.1	37	c.965	CCDS6340.1	8	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045174	0.19748	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.10573	2.99;2.86;2.87;2.99;2.86;2.87	5.07	3.25	0.37280	.	1.462690	0.03737	N	0.254308	T	0.09598	0.0236	L	0.32530	0.975	0.22851	N	0.998653	B;B;B	0.21905	0.029;0.021;0.062	B;B;B	0.19391	0.025;0.017;0.021	T	0.40869	-0.9540	10	0.14252	T	0.57	-15.3688	6.3171	0.21196	0.2212:0.1341:0.6447:0.0	.	266;322;322	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	N	322;266;322;322;266;322	ENSP00000428876:S322N;ENSP00000440565:S266N;ENSP00000445218:S322N;ENSP00000323034:S322N;ENSP00000427979:S266N;ENSP00000276699:S322N	ENSP00000276699:S322N	S	+	2	0	FAM83A	124288769	0.852000	0.29690	0.257000	0.24404	0.095000	0.18619	1.095000	0.30964	0.527000	0.28560	0.436000	0.28706	AGC	0	NULL		0.716	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83A	protein_coding	OTTHUMT00000381737.1	18	44	0	0.00	0	0	G	NM_032899	0	0		124219588	1	no_errors	ENST00000318462	ensembl	human	known	74_37	missense	7	30	36.36	16.67	4	6	SNP	0.952	A
ZFAT	57623	genome.wustl.edu	37	8	135649862	135649862	+	Missense_Mutation	SNP	G	G	A	rs375401473		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:135649862G>A	ENST00000377838.3	-	3	464	c.290C>T	c.(289-291)cCg>cTg	p.P97L	ZFAT_ENST00000520214.1_Missense_Mutation_p.P85L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P97L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P85L|ZFAT_ENST00000520727.1_Missense_Mutation_p.P85L|ZFAT_ENST00000429442.2_Missense_Mutation_p.P85L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	97					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCTCAGTCGGACTCACGAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19560	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4355		0,1,2177	102.0	107.0	105.0		254,254,290,254,290	4.3	0.0	8		105	0,8536		0,0,4268	no	missense,missense,missense,missense,missense	ZFAT	NM_001029939.3,NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_020863.3	98,98,98,98,98	0,1,6445	AA,AG,GG		0.0,0.023,0.0078	benign,benign,benign,benign,benign	85/1232,85/1232,97/1182,85/1146,97/1244	135649862	1,12891	2178	4268	6446	SO:0001583	missense	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.290C>T	8.37:g.135649862G>A	ENSP00000367069:p.Pro97Leu		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P97L	ENST00000377838.3	37	c.290	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	2.917	-0.224061	0.06061	2.3E-4	0.0	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.44482	3.01;2.95;2.95;2.95;2.95;2.94;0.92;1.53	5.15	4.28	0.50868	.	0.619727	0.15197	N	0.275216	T	0.25044	0.0608	N	0.17082	0.46	0.09310	N	1	B;B;B;B	0.18968	0.013;0.032;0.025;0.013	B;B;B;B	0.14578	0.003;0.003;0.011;0.003	T	0.16453	-1.0402	10	0.10902	T	0.67	-14.144	11.2199	0.48848	0.1544:0.0:0.8456:0.0	.	97;85;85;97	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	85;85;85;97;85;85;97;85;35;85	ENSP00000427879:P85L;ENSP00000427831:P85L;ENSP00000394501:P85L;ENSP00000367069:P97L;ENSP00000428483:P85L;ENSP00000429091:P97L;ENSP00000429983:P35L;ENSP00000428192:P85L	ENSP00000326997:P85L	P	-	2	0	ZFAT	135719044	0.433000	0.25562	0.007000	0.13788	0.055000	0.15305	1.845000	0.39279	1.183000	0.42943	-0.224000	0.12420	CCG	0	NULL		0.567	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	protein_coding	OTTHUMT00000378272.1	41	123	0	0.00	0	0	G	NM_001029939	rs375401473	G->A		135649862	-1	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	17	98	32	29.50	8	41	SNP	0.023	A
COL22A1	169044	genome.wustl.edu	37	8	139601675	139601675	+	Missense_Mutation	SNP	C	C	T	rs368533920		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:139601675C>T	ENST00000303045.6	-	65	5148	c.4702G>A	c.(4702-4704)Ggg>Agg	p.G1568R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1548R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1568	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGTTCCCCGGGTTGACCT	0.577										HNSCC(7;0.00092)																													0											0								C	ARG/GLY	0,4406		0,0,2203	37.0	33.0	34.0		4702	5.5	1.0	8		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL22A1	NM_152888.1	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1568/1627	139601675	1,13005	2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4702G>A	8.37:g.139601675C>T	ENSP00000303153:p.Gly1568Arg		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1568R	ENST00000303045.6	37	c.4702	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670947	0.67814	0.0	1.16E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	5.52	5.52	0.82312	.	0.000000	0.51477	D	0.000100	D	0.99760	0.9903	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96949	0.9693	10	0.87932	D	0	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	1548;1568	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1568;1548;1261	ENSP00000303153:G1568R;ENSP00000387655:G1548R	ENSP00000303153:G1568R	G	-	1	0	COL22A1	139670857	1.000000	0.71417	0.990000	0.47175	0.736000	0.42039	7.252000	0.78309	2.752000	0.94435	0.655000	0.94253	GGG	0	pfam_Collagen		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	14	185	0	0.00	0	0	C	XM_291257	rs368533920	C->T		139601675	-1	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	13	162	27.78	26.70	5	59	SNP	1	T
TSNARE1	203062	genome.wustl.edu	37	8	143399961	143399961	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:143399961C>T	ENST00000307180.3	-	7	1045	c.928G>A	c.(928-930)Gca>Aca	p.A310T	TSNARE1_ENST00000524325.1_Missense_Mutation_p.A310T|TSNARE1_ENST00000520166.1_Missense_Mutation_p.A310T|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000519651.1_Missense_Mutation_p.A91T	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	310					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGCTGGCTGCAATGGTCTTG	0.657																																							0											0													94.0	88.0	90.0					8																	143399961		2203	4300	6503	SO:0001583	missense	0					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.928G>A	8.37:g.143399961C>T	ENSP00000303437:p.Ala310Thr		B7ZLB0|Q14D03	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A310T	ENST00000307180.3	37	c.928	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.135319	0.01742	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.0	-2.58	0.06228	t-SNARE (1);	0.539427	0.13518	U	0.381957	T	0.13628	0.0330	N	0.17312	0.475	0.09310	N	1	B;B;B;B	0.17465	0.022;0.004;0.022;0.022	B;B;B;B	0.12837	0.008;0.005;0.008;0.008	T	0.16012	-1.0417	10	0.35671	T	0.21	.	3.607	0.08046	0.3048:0.3648:0.0:0.3305	.	310;91;310;310	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	T	310;310;310;91	ENSP00000428763:A310T;ENSP00000303437:A310T;ENSP00000427770:A310T;ENSP00000429679:A91T	ENSP00000303437:A310T	A	-	1	0	TSNARE1	143397868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.209000	0.01228	-0.164000	0.10927	0.655000	0.94253	GCA	0	superfamily_t-SNARE,smart_Syntaxin_N		0.657	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	protein_coding		22	44	0	0.00	0	0	C	NM_145003	0	0		143399961	-1	no_errors	ENST00000307180	ensembl	human	known	74_37	missense	13	35	31.58	27.08	6	13	SNP	0	T
JRK	8629	genome.wustl.edu	37	8	143746582	143746582	+	RNA	SNP	T	T	A	rs587690059		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:143746582T>A	ENST00000507178.2	-	0	1228							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ccgggagctgtccagcaagag	0.557																																							0											0													18.0	23.0	22.0					8																	143746582		1501	2929	4430			0			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746582T>A			O75565	RNA	SNP	0	NULL	ENST00000507178.2	37	NULL		8																																																																																			0	0		0.557	JRK-003	KNOWN	basic	processed_transcript	JRK	processed_transcript	OTTHUMT00000362914.1	44	75	0	0.00	0	0	T	NM_003724	0	0		143746582	-1	no_errors	ENST00000422119	ensembl	human	known	74_37	rna	28	45	31.71	34.78	13	24	SNP	0.84	A
EEF1D	1936	genome.wustl.edu	37	8	144671269	144671269	+	Intron	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:144671269C>T	ENST00000529272.1	-	2	397				EEF1D_ENST00000442189.2_Missense_Mutation_p.R328H|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.R378H|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.R328H|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCGTGGTGGCGGCACTCGGC	0.687																																							0											0													20.0	21.0	20.0					8																	144671269		2197	4294	6491	SO:0001627	intron_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2250G>A	8.37:g.144671269C>T			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu	p.R328H	ENST00000529272.1	37	c.983	CCDS6405.1	8	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864600	0.32977	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369	.	.	.	4.81	3.93	0.45458	.	0.215315	0.39909	N	0.001227	T	0.44329	0.1288	L	0.53249	1.67	0.80722	D	1	P;P;P	0.42409	0.671;0.671;0.779	B;B;B	0.33799	0.082;0.082;0.17	T	0.51325	-0.8720	9	0.87932	D	0	.	12.32	0.54979	0.0:0.9168:0.0:0.0832	.	328;378;328	D3DWK1;E9PRY8;P29692-2	.;.;.	H	378;328;328;280;328	.	ENSP00000338323:R328H	R	-	2	0	EEF1D	144742412	0.975000	0.34042	1.000000	0.80357	0.290000	0.27261	1.036000	0.30228	1.156000	0.42514	0.491000	0.48974	CGC	0	NULL		0.687	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EEF1D	protein_coding	OTTHUMT00000382592.2	29	39	0	0.00	0	0	C	NM_032378	0	0		144671269	-1	no_errors	ENST00000423316	ensembl	human	known	74_37	missense	21	37	36.36	32.73	12	18	SNP	1	T
BNC2	54796	genome.wustl.edu	37	9	16436639	16436639	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:16436639G>A	ENST00000380672.4	-	6	1610	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	BNC2_ENST00000380666.2_Missense_Mutation_p.A518V|BNC2_ENST00000545497.1_Missense_Mutation_p.A423V|BNC2_ENST00000380667.2_Missense_Mutation_p.A451V	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GACAGGGGTGGCAGCTCCTGA	0.512																																							0											0													71.0	77.0	75.0					9																	16436639		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1553C>T	9.37:g.16436639G>A	ENSP00000370047:p.Ala518Val			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A518V	ENST00000380672.4	37	c.1553	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731041	0.69074	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.33865	1.4;1.39;1.42;1.42;1.39	5.88	5.88	0.94601	.	0.048681	0.85682	D	0.000000	T	0.46983	0.1421	L	0.46157	1.445	0.80722	D	1	B;P;P;B;P;P;P;D;P	0.57571	0.42;0.849;0.906;0.097;0.906;0.849;0.849;0.98;0.849	B;B;P;B;P;B;B;P;B	0.51701	0.098;0.378;0.677;0.067;0.582;0.378;0.378;0.616;0.378	T	0.19943	-1.0290	10	0.41790	T	0.15	-18.0475	20.2422	0.98381	0.0:0.0:1.0:0.0	.	423;451;518;344;518;475;518;423;283	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	V	518;475;451;423;344;518;518	ENSP00000370047:A518V;ENSP00000408370:A475V;ENSP00000370042:A451V;ENSP00000444640:A423V;ENSP00000370041:A518V	ENSP00000370041:A518V	A	-	2	0	BNC2	16426639	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.210000	0.77924	2.782000	0.95742	0.655000	0.94253	GCC	0	NULL		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	protein_coding	OTTHUMT00000216901.5	82	199	0	1.00	0	2	G	NM_017637	0	0		16436639	-1	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	41	191	31.67	28.46	19	76	SNP	1	A
DCAF12	25853	genome.wustl.edu	37	9	34089566	34089566	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:34089566G>A	ENST00000361264.4	-	8	1388	c.1047C>T	c.(1045-1047)taC>taT	p.Y349Y	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	349					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TGATGTGCTCGTAGAAACTCA	0.493																																							0											0													63.0	58.0	60.0					9																	34089566		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1047C>T	9.37:g.34089566G>A			A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y349	ENST00000361264.4	37	c.1047	CCDS6549.1	9																																																																																			0	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.493	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	protein_coding	OTTHUMT00000052133.2	41	179	0	0.00	0	0	G	NM_015397	0	0		34089566	-1	no_errors	ENST00000361264	ensembl	human	known	74_37	silent	41	117	12.77	25.95	6	41	SNP	0.536	A
TLN1	7094	genome.wustl.edu	37	9	35724310	35724310	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:35724310C>T	ENST00000314888.9	-	6	886	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	TLN1_ENST00000540444.1_Missense_Mutation_p.R178Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	178	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCAGTGTCCGACCATGGTC	0.562																																							0											0													74.0	67.0	69.0					9																	35724310		2203	4300	6503	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.533G>A	9.37:g.35724310C>T	ENSP00000316029:p.Arg178Gln		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R178Q	ENST00000314888.9	37	c.533	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984461	0.93044	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.76448	-1.02;-1.02	5.39	5.39	0.77823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	N	0.25647	0.755	0.80722	D	1	P;P	0.41978	0.767;0.462	B;B	0.29785	0.063;0.107	T	0.64149	-0.6475	10	0.08599	T	0.76	-19.0344	19.1711	0.93578	0.0:1.0:0.0:0.0	.	178;178	Q5TCU5;Q9Y490	.;TLN1_HUMAN	Q	178	ENSP00000316029:R178Q;ENSP00000442981:R178Q	ENSP00000316029:R178Q	R	-	2	0	TLN1	35714310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.525000	0.85131	0.655000	0.94253	CGG	0	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	protein_coding	OTTHUMT00000052353.2	38	130	0	0.00	0	0	C	NM_006289	0	0		35724310	-1	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	17	96	19.05	34.69	4	51	SNP	1	T
PAX5	5079	genome.wustl.edu	37	9	37002793	37002793	+	Intron	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:37002793C>T	ENST00000358127.4	-	5	550				PAX5_ENST00000522003.1_Intron|PAX5_ENST00000520154.1_Intron|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000414447.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000523145.1_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5						humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(39)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GAAAGACGGGCGGTCAGGGCC	0.726			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																		0		Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	39	Unknown(39)	haematopoietic_and_lymphoid_tissue(39)											22.0	20.0	21.0					9																	37002793		2193	4294	6487	SO:0001627	intron_variant	0				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.476-20G>A	9.37:g.37002793C>T			A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	RNA	SNP	0	NULL	ENST00000358127.4	37	NULL	CCDS6607.1	9																																																																																			0	0		0.726	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250850	protein_coding	OTTHUMT00000052433.1	40	27	0	0.00	0	0	C		0	0		37002793	1	no_errors	ENST00000509911	ensembl	human	known	74_37	rna	21	17	34.38	29.17	11	7	SNP	0	T
SPATA31D5P	347127	genome.wustl.edu	37	9	84534435	84534435	+	RNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:84534435C>T	ENST00000527857.1	+	0	4457					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GGGCTATCCCCGCAACTACAC	0.502																																							0											0																																												0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84534435C>T				RNA	SNP	0	NULL	ENST00000527857.1	37	NULL		9																																																																																			0	0		0.502	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	pseudogene	OTTHUMT00000052810.2	71	94	0	0.00	0	0	C	NR_026851	0	0		84534435	1	no_errors	ENST00000527857	ensembl	human	known	74_37	rna	39	76	15.22	16.48	7	15	SNP	0	T
CTSL	1514	genome.wustl.edu	37	9	90343563	90343563	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:90343563A>G	ENST00000343150.5	+	5	1350	c.460A>G	c.(460-462)Aaa>Gaa	p.K154E	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.K154E|CTSL_ENST00000342020.5_Missense_Mutation_p.K154E			P07711	CATL1_HUMAN	cathepsin L	154					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										GATGTTCCGGAAAACTGGGAG	0.463																																							0											0													145.0	149.0	148.0					9																	90343563		2203	4300	6503	SO:0001583	missense	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.460A>G	9.37:g.90343563A>G	ENSP00000345344:p.Lys154Glu		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.K154E	ENST00000343150.5	37	c.460	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957415	0.73902	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	D;D;D	0.87571	-2.27;-2.27;-2.27	4.51	3.38	0.38709	Peptidase C1A, papain C-terminal (2);	0.093017	0.64402	D	0.000001	D	0.91975	0.7458	M	0.90650	3.135	0.80722	D	1	P	0.46621	0.881	P	0.53954	0.738	D	0.91681	0.5358	10	0.72032	D	0.01	.	9.7961	0.40735	0.9186:0.0:0.0814:0.0	.	154	P07711	CATL1_HUMAN	E	154	ENSP00000345344:K154E;ENSP00000365061:K154E;ENSP00000340470:K154E	ENSP00000365061:K154E	K	+	1	0	CTSL1	89533383	1.000000	0.71417	0.856000	0.33681	0.932000	0.56968	5.220000	0.65267	0.771000	0.33359	0.533000	0.62120	AAA	0	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.463	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL	protein_coding	OTTHUMT00000052936.1	75	149	0	0.00	0	0	A	NM_001912	0	0		90343563	1	no_errors	ENST00000340342	ensembl	human	known	74_37	missense	32	85	30.43	34.33	14	46	SNP	1	G
SEMA4D	10507	genome.wustl.edu	37	9	91994251	91994251	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:91994251C>T	ENST00000450295.1	-	16	2733	c.1957G>A	c.(1957-1959)Gta>Ata	p.V653I	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.V653I|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.V653I|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.V653I			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	653					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGCCACTACGGGCTTTGGA	0.557																																							0											0													140.0	146.0	144.0					9																	91994251		2203	4300	6503	SO:0001583	missense	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1957G>A	9.37:g.91994251C>T	ENSP00000416523:p.Val653Ile		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.V653I	ENST00000450295.1	37	c.1957	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	C	0.168	-1.073968	0.01918	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.13	-2.93	0.05598	.	2.733310	0.01004	N	0.003721	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.09377	0.004	T	0.15009	-1.0452	10	0.34782	T	0.22	.	1.1519	0.01787	0.2523:0.1067:0.1905:0.4505	.	653	Q92854	SEM4D_HUMAN	I	653	ENSP00000416523:V653I;ENSP00000405102:V653I;ENSP00000348822:V653I;ENSP00000388768:V653I	ENSP00000348822:V653I	V	-	1	0	SEMA4D	91184071	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.078000	0.14761	-0.345000	0.08325	-0.311000	0.09066	GTA	0	NULL		0.557	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	protein_coding	OTTHUMT00000342411.1	33	224	2.94	0.00	1	0	C	NM_006378	0	0		91994251	-1	no_errors	ENST00000356444	ensembl	human	known	74_37	missense	25	172	28.57	30.65	10	76	SNP	0	T
ANKRD19P	138649	genome.wustl.edu	37	9	95576206	95576206	+	RNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:95576206C>T	ENST00000473204.1	+	0	649							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TGGAACATGGCGCCAATCCAA	0.408																																							0											0													70.0	53.0	58.0					9																	95576206		692	1591	2283			0			BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95576206C>T			A8K853|Q17RD3	RNA	SNP	0	NULL	ENST00000473204.1	37	NULL		9																																																																																			0	0		0.408	ANKRD19P-004	KNOWN	basic	processed_transcript	ANKRD19P	pseudogene	OTTHUMT00000053116.3	211	61	0	0.00	0	0	C	NR_026868	0	0		95576206	1	no_errors	ENST00000460854	ensembl	human	known	74_37	rna	113	61	30.06	22.78	49	18	SNP	0.27	T
ANKRD19P	138649	genome.wustl.edu	37	9	95646205	95646205	+	RNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:95646205G>A	ENST00000446878.1	+	0	0				ANKRD19P_ENST00000473204.1_RNA																							TTGTCTCCTCGCGTCATCTTG	0.587																																							0											0																																												0																															9.37:g.95646205G>A				RNA	SNP	0	NULL	ENST00000446878.1	37	NULL		9																																																																																			0	0		0.587	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	pseudogene	OTTHUMT00000316907.1	157	63	0	0.00	0	0	G		0	0		95646205	1	no_errors	ENST00000411450	ensembl	human	known	74_37	rna	94	58	33.8	23.38	48	18	SNP	0.005	A
C9orf89	84270	genome.wustl.edu	37	9	95870091	95870091	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:95870091C>T	ENST00000375464.2	+	2	271	c.143C>T	c.(142-144)gCg>gTg	p.A48V		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	48	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						AACAAGGAGGCGGAAAAGGTG	0.577																																							0											0													82.0	64.0	70.0					9																	95870091		2203	4300	6503	SO:0001583	missense	0			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.143C>T	9.37:g.95870091C>T	ENSP00000364613:p.Ala48Val		Q5BJH8|Q9BSY2	Missense_Mutation	SNP	superfamily_DEATH-like_dom	p.A48V	ENST00000375464.2	37	c.143	CCDS6702.2	9	.	.	.	.	.	.	.	.	.	.	C	33	5.202584	0.94997	.	.	ENSG00000165233	ENST00000375464	T	0.15256	2.44	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	.	.	.	0.48975	D	0.999739	D	0.76494	0.999	P	0.62089	0.898	T	0.30149	-0.9988	9	0.87932	D	0	.	16.516	0.84300	0.0:1.0:0.0:0.0	.	48	Q96LW7-2	.	V	48	ENSP00000364613:A48V	ENSP00000364613:A48V	A	+	2	0	C9orf89	94909912	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	5.759000	0.68785	2.584000	0.87258	0.561000	0.74099	GCG	0	superfamily_DEATH-like_dom		0.577	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf89	protein_coding	OTTHUMT00000053128.1	73	239	0	0.00	0	0	C	NM_032310	0	0		95870091	1	no_errors	ENST00000466409	ensembl	human	known	74_37	missense	35	154	28	32.02	14	73	SNP	0.997	T
SLC35D2	11046	genome.wustl.edu	37	9	99122450	99122450	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:99122450G>A	ENST00000253270.7	-	4	395	c.333C>T	c.(331-333)agC>agT	p.S111S	SLC35D2_ENST00000375259.4_Silent_p.S111S|SLC35D2_ENST00000375257.1_Silent_p.S111S|SLC35D2_ENST00000482643.1_5'UTR	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	111					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ATTTACTTGTGCTTGATAATC	0.383																																							0											0													114.0	101.0	106.0					9																	99122450		2203	4300	6503	SO:0001819	synonymous_variant	0			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.333C>T	9.37:g.99122450G>A			O95454|Q498C1|Q75W21|Q7Z5X5	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_UAA	p.S111	ENST00000253270.7	37	c.333	CCDS6717.1	9																																																																																			0	pfam_UAA		0.383	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D2	protein_coding	OTTHUMT00000053261.1	53	261	0	0.00	0	0	G		0	0		99122450	-1	no_errors	ENST00000253270	ensembl	human	known	74_37	silent	26	220	27.78	23.26	10	67	SNP	1	A
GRIN3A	116443	genome.wustl.edu	37	9	104385644	104385644	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:104385644G>A	ENST00000361820.3	-	5	3170	c.2570C>T	c.(2569-2571)gCt>gTt	p.A857V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	857					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTTGCAGTCAGCATCTATTGA	0.418																																							0											0													165.0	149.0	154.0					9																	104385644		2203	4300	6503	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2570C>T	9.37:g.104385644G>A	ENSP00000355155:p.Ala857Val		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.A857V	ENST00000361820.3	37	c.2570	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419518	0.83559	.	.	ENSG00000198785	ENST00000361820	T	0.28255	1.62	5.72	4.82	0.62117	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.64997	1.995	0.58432	D	0.999998	P	0.48089	0.905	P	0.46629	0.522	T	0.40232	-0.9574	10	0.62326	D	0.03	.	16.0797	0.80995	0.0:0.0:0.8649:0.1351	.	857	Q8TCU5	NMD3A_HUMAN	V	857	ENSP00000355155:A857V	ENSP00000355155:A857V	A	-	2	0	GRIN3A	103425465	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	1.415000	0.47037	-0.188000	0.12872	GCT	0	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.418	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	104	164	0	0.00	0	0	G		0	0		104385644	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	60	141	27.71	29.35	23	59	SNP	1	A
ABCA1	19	genome.wustl.edu	37	9	107646762	107646762	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:107646762C>T	ENST00000374736.3	-	4	642	c.248G>A	c.(247-249)cGt>cAt	p.R83H	ABCA1_ENST00000374733.1_Missense_Mutation_p.R23H|ABCA1_ENST00000423487.2_Missense_Mutation_p.R83H	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	83					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTCGGGTAACGGAAACAGGG	0.453																																							0											0													77.0	80.0	79.0					9																	107646762		2203	4300	6503	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.248G>A	9.37:g.107646762C>T	ENSP00000363868:p.Arg83His		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R83H	ENST00000374736.3	37	c.248	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994908	0.93167	.	.	ENSG00000165029	ENST00000374736;ENST00000423487;ENST00000374733	D;D;D	0.98474	-4.95;-4.95;-4.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	L	0.54323	1.7	0.80722	D	1	D;B	0.89917	1.0;0.258	D;B	0.97110	1.0;0.035	D	0.99113	1.0847	10	0.44086	T	0.13	.	19.5543	0.95335	0.0:1.0:0.0:0.0	.	23;83	B1AMI1;O95477	.;ABCA1_HUMAN	H	83;83;23	ENSP00000363868:R83H;ENSP00000416623:R83H;ENSP00000363865:R23H	ENSP00000363865:R23H	R	-	2	0	ABCA1	106686583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.766000	0.85320	2.634000	0.89283	0.563000	0.77884	CGT	0	NULL		0.453	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	protein_coding	OTTHUMT00000053491.1	123	228	0	0.00	0	0	C	NM_005502	0	0		107646762	-1	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	72	248	25	26.63	24	90	SNP	1	T
SLC46A2	57864	genome.wustl.edu	37	9	115652022	115652022	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:115652022C>T	ENST00000374228.4	-	1	1171	c.940G>A	c.(940-942)Ggt>Agt	p.G314S		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	314					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TGGTTCCAACCGAGAGGCTCC	0.557																																							0											0													102.0	94.0	97.0					9																	115652022		2203	4300	6503	SO:0001583	missense	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.940G>A	9.37:g.115652022C>T	ENSP00000363345:p.Gly314Ser		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.G314S	ENST00000374228.4	37	c.940	CCDS6786.1	9	.	.	.	.	.	.	.	.	.	.	C	3.162	-0.171848	0.06421	.	.	ENSG00000119457	ENST00000374228	D	0.86627	-2.15	5.66	3.27	0.37495	Major facilitator superfamily domain, general substrate transporter (1);	0.418165	0.33327	N	0.005029	T	0.56171	0.1967	N	0.00368	-1.59	0.22620	N	0.998927	B	0.02656	0.0	B	0.01281	0.0	T	0.53514	-0.8428	10	0.08599	T	0.76	0.569	8.0955	0.30826	0.0:0.0719:0.1405:0.7877	.	314	Q9BY10	TSCOT_HUMAN	S	314	ENSP00000363345:G314S	ENSP00000363345:G314S	G	-	1	0	SLC46A2	114691843	0.968000	0.33430	0.594000	0.28785	0.940000	0.58332	1.518000	0.35877	0.424000	0.26061	-0.357000	0.07601	GGT	0	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.557	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	protein_coding	OTTHUMT00000053702.1	53	173	0	0.00	0	0	C	NM_033051	0	0		115652022	-1	no_errors	ENST00000374228	ensembl	human	known	74_37	missense	15	113	46.43	35.59	13	63	SNP	0.977	T
RGS3	5998	genome.wustl.edu	37	9	116268675	116268675	+	Silent	SNP	G	G	A	rs565492325		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:116268675G>A	ENST00000374140.2	+	13	1196	c.987G>A	c.(985-987)ccG>ccA	p.P329P	RGS3_ENST00000343817.5_Silent_p.P48P|RGS3_ENST00000394646.3_Silent_p.P48P|RGS3_ENST00000317613.6_Silent_p.P217P|RGS3_ENST00000350696.5_Silent_p.P329P|RGS3_ENST00000374136.1_5'UTR	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	329	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGGGGGTCCGGCGGAACGGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17977	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0													14.0	15.0	15.0					9																	116268675		2199	4297	6496	SO:0001819	synonymous_variant	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.987G>A	9.37:g.116268675G>A			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.P329	ENST00000374140.2	37	c.987	CCDS43869.1	9																																																																																			0	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.607	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	protein_coding	OTTHUMT00000055561.3	29	140	0	0.00	0	0	G	NM_017790	rs565492325	G->A		116268675	1	no_errors	ENST00000350696	ensembl	human	known	74_37	silent	16	96	27.27	33.79	6	49	SNP	0.01	A
ENG	2022	genome.wustl.edu	37	9	130587557	130587557	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:130587557G>T	ENST00000373203.4	-	6	1169	c.769C>A	c.(769-771)Ccc>Acc	p.P257T	ENG_ENST00000344849.3_Missense_Mutation_p.P257T|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'Flank	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	257	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GACACGTAGGGGGGACCCTGC	0.632									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																														0											0													77.0	60.0	66.0					9																	130587557		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.769C>A	9.37:g.130587557G>T	ENSP00000362299:p.Pro257Thr		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	pfam_ZP_dom	p.P257T	ENST00000373203.4	37	c.769	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	g	10.12	1.262319	0.23051	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.42513	0.97;1.55	4.58	2.72	0.32119	.	0.529435	0.17221	N	0.182337	T	0.44767	0.1309	M	0.65975	2.015	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.48304	0.573;0.573	T	0.33574	-0.9863	10	0.56958	D	0.05	-7.6282	7.22	0.25981	0.0931:0.3557:0.5511:0.0	.	257;257	Q5T9B9;P17813	.;EGLN_HUMAN	T	257;257;257;75	ENSP00000362299:P257T;ENSP00000341917:P257T	ENSP00000341917:P257T	P	-	1	0	ENG	129627378	0.076000	0.21285	0.009000	0.14445	0.003000	0.03518	0.758000	0.26447	0.555000	0.29079	-0.334000	0.08254	CCC	0	NULL		0.632	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	protein_coding	OTTHUMT00000054313.1	12	53	0	0.00	0	0	G		0	0		130587557	-1	no_errors	ENST00000373203	ensembl	human	known	74_37	missense	8	43	33.33	21.82	4	12	SNP	0.005	T
FAM73B	84895	genome.wustl.edu	37	9	131804565	131804565	+	Intron	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:131804565G>A	ENST00000358369.4	+	3	322				FAM73B_ENST00000406926.2_Intron|FAM73B_ENST00000277475.5_Intron|FAM73B_ENST00000474534.1_Intron	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B						bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AACCGGCAGCGTCTCCTCTTC	0.662																																							0											0													40.0	31.0	34.0					9																	131804565		2203	4300	6503	SO:0001627	intron_variant	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.97-18G>A	9.37:g.131804565G>A			Q8NBM3|Q8TEJ6|Q969E6	RNA	SNP	0	NULL	ENST00000358369.4	37	NULL	CCDS6917.1	9																																																																																			0	0		0.662	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	protein_coding	OTTHUMT00000054542.7	16	151	0	0.00	0	0	G	NM_032809	0	0		131804565	1	no_errors	ENST00000477088	ensembl	human	known	74_37	rna	24	105	35.14	31.61	13	49	SNP	0	A
HMCN2	256158	genome.wustl.edu	37	9	133267461	133267461	+	3'UTR	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:133267461G>A	ENST00000487727.2	+	0	1186							Q8NDA2	HMCN2_HUMAN	hemicentin 2						response to stimulus (GO:0050896)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)										TGCCCCTCCCGCTCTCCCAGC	0.682																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AK074396		9q34.11	2013-01-29			ENSG00000148357	ENSG00000148357		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21293	protein-coding gene	gene with protein product							Standard	XM_006710218		Approved	DKFZp434P0216, FLJ23816		Q8NDA2	OTTHUMG00000140096	ENST00000487727.2:c.*1183G>A	9.37:g.133267461G>A			Q8N225|Q8TCI8	RNA	SNP	0	NULL	ENST00000487727.2	37	NULL		9																																																																																			0	0		0.682	HMCN2-006	KNOWN	mRNA_start_NF|basic	processed_transcript	HMCN2	protein_coding	OTTHUMT00000054659.3	60	52	0	0.00	0	0	G	XM_175125	0	0		133267461	1	no_errors	ENST00000487727	ensembl	human	known	74_37	rna	44	29	13.73	25.64	7	10	SNP	0.883	A
PRRC2B	84726	genome.wustl.edu	37	9	134354747	134354747	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:134354747C>A	ENST00000357304.4	+	18	4922	c.4867C>A	c.(4867-4869)Ctg>Atg	p.L1623M	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.L929M|PRRC2B_ENST00000405995.1_Missense_Mutation_p.L929M	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1623							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGCAGCAGCCTGGGCACTGA	0.567																																							0											0													44.0	45.0	45.0					9																	134354747		2022	4192	6214	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4867C>A	9.37:g.134354747C>A	ENSP00000349856:p.Leu1623Met		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.L1623M	ENST00000357304.4	37	c.4867	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.90|17.90	3.502415|3.502415	0.64298|0.64298	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000451855	T;T;T|.	0.03468|.	3.92;4.19;3.92|.	5.23|5.23	3.33|3.33	0.38152|0.38152	.|.	0.000000|.	0.32987|.	U|.	0.005420|.	T|T	0.62551|0.62551	0.2437|0.2437	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.58165|0.58165	-0.7684|-0.7684	10|5	0.42905|.	T|.	0.14|.	-31.324|-31.324	8.3748|8.3748	0.32436|0.32436	0.0:0.8131:0.0:0.1869|0.0:0.8131:0.0:0.1869	.|.	356;1623|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	M|H	929;1623;929|356	ENSP00000384606:L929M;ENSP00000349856:L1623M;ENSP00000398853:L929M|.	ENSP00000349856:L1623M|.	L|P	+|+	1|2	2|0	PRRC2B|PRRC2B	133344568|133344568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	2.730000|2.730000	0.47335|0.47335	0.544000|0.544000	0.28883|0.28883	0.455000|0.455000	0.32223|0.32223	CTG|CCT	0	NULL		0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	protein_coding		41	73	0	0.00	0	0	C		0	0		134354747	1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	16	79	15.79	15.96	3	15	SNP	1	A
NTNG2	84628	genome.wustl.edu	37	9	135102273	135102273	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:135102273C>T	ENST00000393229.3	+	4	1671	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	NTNG2_ENST00000360670.3_Missense_Mutation_p.R299C|NTNG2_ENST00000393228.4_Missense_Mutation_p.R299C|NTNG2_ENST00000372179.3_Missense_Mutation_p.R299C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	299	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GTGCTCCATGCGCGAGGGCAG	0.662																																							0											0													40.0	34.0	36.0					9																	135102273		2203	4300	6503	SO:0001583	missense	0			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.895C>T	9.37:g.135102273C>T	ENSP00000376921:p.Arg299Cys		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.R299C	ENST00000393229.3	37	c.895	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304483	0.40795	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.86	3.87	0.44632	EGF-like, laminin (3);	0.502367	0.17877	N	0.158965	T	0.55016	0.1894	L	0.48642	1.525	0.47153	D	0.999333	D	0.55385	0.971	B	0.42422	0.387	T	0.60949	-0.7161	10	0.56958	D	0.05	.	11.6461	0.51261	0.2504:0.7495:0.0:0.0	.	299	Q96CW9	NTNG2_HUMAN	C	299	ENSP00000376921:R299C;ENSP00000376920:R299C;ENSP00000353888:R299C;ENSP00000361252:R299C	ENSP00000353888:R299C	R	+	1	0	NTNG2	134092094	0.802000	0.28943	0.610000	0.28997	0.173000	0.22820	0.804000	0.27098	2.242000	0.73789	0.313000	0.20887	CGC	0	pfam_EGF_laminin,smart_EGF_laminin		0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	protein_coding	OTTHUMT00000054779.1	41	13	0	0.00	0	0	C	NM_032536	0	0		135102273	1	no_errors	ENST00000360670	ensembl	human	known	74_37	missense	28	8	23.68	33.33	9	4	SNP	0.877	T
SURF6	6838	genome.wustl.edu	37	9	136199551	136199551	+	Missense_Mutation	SNP	G	G	A	rs146687433	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:136199551G>A	ENST00000372022.4	-	4	704	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	147					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TGCTTTCTCCGCCGCCTTTTC	0.627																																							0											0													80.0	87.0	84.0					9																	136199551		2202	4300	6502	SO:0001583	missense	0			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.439C>T	9.37:g.136199551G>A	ENSP00000361092:p.Arg147Trp		Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.R147W	ENST00000372022.4	37	c.439	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	g	10.78	1.447086	0.25987	.	.	ENSG00000148296	ENST00000372022	T	0.16324	2.35	4.38	0.222	0.15288	.	0.273165	0.34580	N	0.003848	T	0.38852	0.1056	M	0.72118	2.19	0.27102	N	0.962596	D	0.89917	1.0	D	0.85130	0.997	T	0.37361	-0.9709	10	0.56958	D	0.05	-25.0593	15.418	0.74987	0.0:0.0:0.5904:0.4096	.	147	O75683	SURF6_HUMAN	W	147	ENSP00000361092:R147W	ENSP00000361092:R147W	R	-	1	2	SURF6	135189372	0.775000	0.28604	0.021000	0.16686	0.004000	0.04260	1.075000	0.30716	-0.417000	0.07461	-4.184000	0.00009	CGG	0	pfam_Surf6		0.627	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	protein_coding	OTTHUMT00000054905.1	30	101	0	0.00	0	0	G	NM_006753	0	0		136199551	-1	no_errors	ENST00000372022	ensembl	human	known	74_37	missense	19	78	34.48	37.01	10	47	SNP	0.172	A
ADAMTS13	11093	genome.wustl.edu	37	9	136291138	136291138	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:136291138C>T	ENST00000371929.3	+	5	939	c.495C>T	c.(493-495)gaC>gaT	p.D165D	ADAMTS13_ENST00000356589.2_Silent_p.D165D|ADAMTS13_ENST00000355699.2_Silent_p.D165D|ADAMTS13_ENST00000371911.3_Silent_p.D165D|ADAMTS13_ENST00000536611.1_5'Flank|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_Silent_p.D165D	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	165	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCCTGAGGACGACACGGATC	0.607																																							0											0													125.0	99.0	108.0					9																	136291138		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.495C>T	9.37:g.136291138C>T			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D165	ENST00000371929.3	37	c.495	CCDS6970.1	9																																																																																			0	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.607	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	protein_coding	OTTHUMT00000054920.1	25	112	0	0.00	0	0	C	NM_139025	0	0		136291138	1	no_errors	ENST00000371929	ensembl	human	known	74_37	silent	23	105	23.33	21.64	7	29	SNP	0.239	T
OLFM1	10439	genome.wustl.edu	37	9	138011647	138011647	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:138011647G>A	ENST00000371793.3	+	6	1332	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	OLFM1_ENST00000371796.3_Missense_Mutation_p.E334K|OLFM1_ENST00000252854.4_Missense_Mutation_p.E343K	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	361	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGGTGGACGAGAGCGGGCT	0.612																																							0											0													74.0	60.0	65.0					9																	138011647		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1081G>A	9.37:g.138011647G>A	ENSP00000360858:p.Glu361Lys		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.E361K	ENST00000371793.3	37	c.1081		9	.	.	.	.	.	.	.	.	.	.	G	34	5.321201	0.95682	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.93763	-3.28;-3.28;-3.28	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.987	D	0.98982	1.0805	10	0.87932	D	0	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	361;343	Q99784;Q6IMJ8	NOE1_HUMAN;.	K	343;334;361	ENSP00000252854:E343K;ENSP00000360861:E334K;ENSP00000360858:E361K	ENSP00000252854:E343K	E	+	1	0	OLFM1	137151468	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GAG	0	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like		0.612	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	protein_coding	OTTHUMT00000054974.1	15	121	0	0.00	0	0	G	NM_014279	0	0		138011647	1	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	13	100	31.58	30.34	6	44	SNP	1	A
SNAPC4	6621	genome.wustl.edu	37	9	139272182	139272182	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139272182G>A	ENST00000298532.2	-	21	4465	c.4097C>T	c.(4096-4098)gCg>gTg	p.A1366V		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGAACCGCGCCCGCAACAG	0.721																																							0											0													21.0	24.0	23.0					9																	139272182		2193	4295	6488	SO:0001583	missense	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.4097C>T	9.37:g.139272182G>A	ENSP00000298532:p.Ala1366Val			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A1366V	ENST00000298532.2	37	c.4097	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	g	12.60	1.986888	0.35036	.	.	ENSG00000165684	ENST00000298532	T	0.35236	1.32	4.06	3.15	0.36227	.	0.325286	0.26418	N	0.024486	T	0.24084	0.0583	L	0.52573	1.65	0.09310	N	1	P	0.41710	0.76	B	0.28305	0.088	T	0.26815	-1.0092	10	0.87932	D	0	-8.5538	6.4992	0.22160	0.0953:0.0:0.7281:0.1766	.	1366	Q5SXM2	SNPC4_HUMAN	V	1366	ENSP00000298532:A1366V	ENSP00000298532:A1366V	A	-	2	0	SNAPC4	138392003	1.000000	0.71417	0.017000	0.16124	0.007000	0.05969	3.685000	0.54678	0.680000	0.31366	0.556000	0.70494	GCG	0	NULL		0.721	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	protein_coding	OTTHUMT00000055071.1	13	55	0	0.00	0	0	G	NM_003086	0	0		139272182	-1	no_errors	ENST00000298532	ensembl	human	known	74_37	missense	8	34	27.27	22.73	3	10	SNP	0.325	A
SNAPC4	6621	genome.wustl.edu	37	9	139289753	139289753	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139289753G>A	ENST00000298532.2	-	4	836	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACTCACCACGCCCGTGACCT	0.582																																							0											0													102.0	83.0	89.0					9																	139289753		2203	4299	6502	SO:0001819	synonymous_variant	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.468C>T	9.37:g.139289753G>A				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.G156	ENST00000298532.2	37	c.468	CCDS6998.1	9																																																																																			0	NULL		0.582	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	protein_coding	OTTHUMT00000055071.1	28	180	0	0.00	0	0	G	NM_003086	0	0		139289753	-1	no_errors	ENST00000298532	ensembl	human	known	74_37	silent	19	119	29.63	26.54	8	43	SNP	0.997	A
MAMDC4	158056	genome.wustl.edu	37	9	139751042	139751042	+	3'UTR	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139751042T>C	ENST00000485732.1	+	0	2194				MAMDC4_ENST00000445819.1_Intron|MAMDC4_ENST00000317446.2_Intron					MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGCTGCCCATCCTCACTCCC	0.647																																							0											0													53.0	52.0	52.0					9																	139751042		875	1990	2865	SO:0001624	3_prime_UTR_variant	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000485732.1:c.*2191T>C	9.37:g.139751042T>C				RNA	SNP	0	NULL	ENST00000485732.1	37	NULL		9																																																																																			0	0		0.647	MAMDC4-001	KNOWN	basic	processed_transcript	MAMDC4	protein_coding	OTTHUMT00000055156.1	25	41	0	0.00	0	0	T	NM_206920	0	0		139751042	1	no_errors	ENST00000485732	ensembl	human	known	74_37	rna	14	44	39.13	26.67	9	16	SNP	0	C
LCN12	286256	genome.wustl.edu	37	9	139848225	139848225	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139848225G>A	ENST00000371633.3	+	3	325	c.325G>A	c.(325-327)Ggt>Agt	p.G109S	LCN12_ENST00000466277.1_3'UTR	NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	109					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGTGGACCACGGTGTGGGTAA	0.647																																							0											0													31.0	36.0	34.0					9																	139848225		2074	4181	6255	SO:0001583	missense	0			BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.325G>A	9.37:g.139848225G>A	ENSP00000360696:p.Gly109Ser		A2AMJ7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_N_gelatinase	p.G109S	ENST00000371633.3	37	c.325	CCDS7018.2	9	.	.	.	.	.	.	.	.	.	.	G	9.322	1.058189	0.19987	.	.	ENSG00000184925	ENST00000371633;ENST00000371632	T;D	0.82167	3.16;-1.58	1.72	-3.44	0.04796	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	2.174090	0.02757	N	0.118155	T	0.64670	0.2619	N	0.22421	0.69	0.09310	N	1	P;P	0.43519	0.455;0.809	B;B	0.29353	0.083;0.101	T	0.60657	-0.7220	10	0.41790	T	0.15	-0.1251	4.0071	0.09607	0.284:0.3889:0.3271:0.0	.	109;109	Q8IW14;Q6JVE5	.;LCN12_HUMAN	S	109;43	ENSP00000360696:G109S;ENSP00000360695:G43S	ENSP00000360695:G43S	G	+	1	0	LCN12	138968046	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.017000	0.03630	-1.722000	0.01377	0.313000	0.20887	GGT	0	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase		0.647	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN12	protein_coding	OTTHUMT00000257990.1	43	62	0	0.00	0	0	G	NM_178536	0	0		139848225	1	no_errors	ENST00000371633	ensembl	human	known	74_37	missense	31	47	20.51	18.97	8	11	SNP	0	A
ABCA2	20	genome.wustl.edu	37	9	139911670	139911670	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139911670G>A	ENST00000371605.3	-	17	2675	c.2528C>T	c.(2527-2529)aCg>aTg	p.T843M	ABCA2_ENST00000265662.5_Missense_Mutation_p.T844M|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.T844M			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	843					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTCGAAGGCCGTGATCTTATC	0.652																																							0											0													55.0	63.0	60.0					9																	139911670		2167	4256	6423	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2528C>T	9.37:g.139911670G>A	ENSP00000360666:p.Thr843Met		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T844M	ENST00000371605.3	37	c.2531		9	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719419	0.68844	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84730	-1.89;-1.89;-1.89	4.61	4.61	0.57282	.	0.177563	0.48767	N	0.000162	D	0.91389	0.7283	M	0.68952	2.095	0.53688	D	0.999977	D;P	0.89917	1.0;0.845	D;B	0.80764	0.994;0.445	D	0.92436	0.5958	10	0.66056	D	0.02	.	17.4162	0.87500	0.0:0.0:1.0:0.0	.	843;874	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	M	844;843;874;844	ENSP00000265662:T844M;ENSP00000360666:T843M;ENSP00000344155:T844M	ENSP00000265662:T844M	T	-	2	0	ABCA2	139031491	1.000000	0.71417	0.988000	0.46212	0.827000	0.46813	9.708000	0.98727	2.116000	0.64780	0.313000	0.20887	ACG	0	NULL		0.652	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	protein_coding		23	63	0	0.00	0	0	G	NM_001606	0	0		139911670	-1	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	18	59	28	24.36	7	19	SNP	1	A
PFKP	5214	genome.wustl.edu	37	10	3147406	3147406	+	Intron	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:3147406T>C	ENST00000381125.4	+	6	741				PFKP_ENST00000381075.2_Intron	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ACCCTCAGCATCATCTCCCTG	0.627																																							0											0													47.0	43.0	44.0					10																	3147406		692	1591	2283	SO:0001627	intron_variant	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.665+55T>C	10.37:g.3147406T>C			B3KS15|Q5VSR7|Q5VSR8	RNA	SNP	0	NULL	ENST00000381125.4	37	NULL	CCDS7059.1	10																																																																																			0	0		0.627	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	protein_coding	OTTHUMT00000046454.1	21	108	0	0.00	0	0	T	NM_002627	0	0		3147406	1	no_errors	ENST00000460445	ensembl	human	known	74_37	rna	16	87	23.81	23.01	5	26	SNP	0	C
MYO3A	53904	genome.wustl.edu	37	10	26500901	26500901	+	3'UTR	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:26500901C>T	ENST00000265944.5	+	0	5026				MYO3A_ENST00000543632.1_Nonsense_Mutation_p.R636*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACCGTTCAACGAGGCAGTCA	0.682																																							0											0													27.0	32.0	30.0					10																	26500901		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.*9C>T	10.37:g.26500901C>T			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.R636*	ENST00000265944.5	37	c.1906	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091532	0.55968	.	.	ENSG00000095777	ENST00000543632	.	.	.	3.83	-0.25	0.13007	.	.	.	.	.	.	.	.	.	.	.	0.38978	D	0.958885	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0523	0.06173	0.1705:0.4001:0.3313:0.0981	.	.	.	.	X	636	.	ENSP00000445909:R636X	R	+	1	2	MYO3A	26540907	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.158000	0.16422	-0.027000	0.13873	-0.511000	0.04467	CGA	0	smart_Myosin_head_motor_dom		0.682	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	24	60	0	0.00	0	0	C	NM_017433	0	0		26500901	1	no_errors	ENST00000543632	ensembl	human	known	74_37	nonsense	15	40	21.05	35.48	4	22	SNP	0	T
ACBD5	91452	genome.wustl.edu	37	10	27524095	27524095	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:27524095G>T	ENST00000375888.1	-	2	286	c.222C>A	c.(220-222)ttC>ttA	p.F74L	ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000476758.1_Intron|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000375905.4_Missense_Mutation_p.F41L|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000396271.3_Missense_Mutation_p.F76L			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	74	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.|Acyl-CoA binding.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTGCTTATAGAAGCTATAAA	0.358																																							0											0													71.0	71.0	71.0					10																	27524095		2203	4299	6502	SO:0001583	missense	0			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.222C>A	10.37:g.27524095G>T	ENSP00000365049:p.Phe74Leu		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.F74L	ENST00000375888.1	37	c.222		10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984291	0.74474	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56	5.59	1.62	0.23740	.	0.046321	0.85682	D	0.000000	T	0.09247	0.0228	N	0.01242	-0.935	0.80722	D	1	D;D	0.76494	0.977;0.999	D;D	0.75020	0.935;0.985	T	0.40213	-0.9575	10	0.33940	T	0.23	-12.3514	5.4483	0.16548	0.3212:0.1452:0.5337:0.0	.	76;74	Q5T8D3-3;B7Z2R7	.;.	L	71;76;41;74;83;41	ENSP00000379568:F76L;ENSP00000365070:F41L;ENSP00000365049:F74L;ENSP00000401591:F83L;ENSP00000393398:F41L	ENSP00000365049:F74L	F	-	3	2	ACBD5	27564101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.351000	0.34022	0.396000	0.25283	0.585000	0.79938	TTC	0	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein		0.358	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	protein_coding	OTTHUMT00000047314.1	109	294	0	0.00	0	0	G	NM_145698	0	0		27524095	-1	no_errors	ENST00000375888	ensembl	human	known	74_37	missense	45	265	35.71	27.20	25	99	SNP	1	T
ZNF32	7580	genome.wustl.edu	37	10	44141597	44141597	+	5'UTR	SNP	C	C	T	rs199726414		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:44141597C>T	ENST00000395797.1	-	0	173				ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_5'UTR|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CTCCTGCTTACGACCTCAGTC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		21743	0.0		0.001	False		,,,				2504	0.0						0											0								C	,	1,4405	2.1+/-5.4	0,1,2202	128.0	98.0	108.0		,	-2.9	0.0	10		108	7,8593	5.7+/-21.5	0,7,4293	no	utr-5,utr-5	ZNF32	NM_001005368.1,NM_006973.2	,	0,8,6495	TT,TC,CC		0.0814,0.0227,0.0615	,	,	44141597	8,12998	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.-16G>A	10.37:g.44141597C>T			Q92951	RNA	SNP	0	NULL	ENST00000395797.1	37	NULL	CCDS7206.1	10																																																																																			0	0		0.463	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32-AS2	protein_coding	OTTHUMT00000047723.1	33	242	0	0.00	0	0	C	NM_006973	rs199726414	C->T		44141597	1	no_errors	ENST00000418966	ensembl	human	known	74_37	rna	15	162	25	33.88	5	83	SNP	0	T
RBP3	5949	genome.wustl.edu	37	10	48389493	48389493	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:48389493C>T	ENST00000224600.4	-	1	1498	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	462	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACACCTGGCGCAGGACATA	0.627																																							0											0													50.0	46.0	47.0					10																	48389493		2203	4300	6503	SO:0001583	missense	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1385G>A	10.37:g.48389493C>T	ENSP00000224600:p.Arg462His		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.R462H	ENST00000224600.4	37	c.1385	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603634	0.28534	.	.	ENSG00000107618	ENST00000224600	T	0.63580	-0.05	5.43	-0.103	0.13609	Interphotoreceptor retinol-binding (2);	0.584007	0.17545	N	0.170394	T	0.43831	0.1265	L	0.32530	0.975	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.25813	-1.0121	10	0.11794	T	0.64	-11.3249	10.3376	0.43858	0.0:0.4286:0.0:0.5714	.	462	P10745	RET3_HUMAN	H	462	ENSP00000224600:R462H	ENSP00000224600:R462H	R	-	2	0	RBP3	48009499	0.000000	0.05858	0.468000	0.27192	0.848000	0.48234	-1.056000	0.03489	-0.032000	0.13758	0.561000	0.74099	CGC	0	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	protein_coding	OTTHUMT00000047888.1	43	147	2.27	0.00	1	0	C	NM_002900	0	0		48389493	-1	no_errors	ENST00000224600	ensembl	human	known	74_37	missense	27	124	28.95	21.02	11	33	SNP	0	T
FRMPD2	143162	genome.wustl.edu	37	10	49440315	49440315	+	Silent	SNP	G	G	T	rs138922688		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:49440315G>T	ENST00000374201.3	-	10	1313	c.1011C>A	c.(1009-1011)tcC>tcA	p.S337S	FRMPD2_ENST00000407470.4_Silent_p.S306S|FRMPD2_ENST00000305531.3_Silent_p.S313S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	337					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GAGCCAAATAGGATTTCCCTT	0.433																																							0											0													70.0	66.0	68.0					10																	49440315		2203	4300	6503	SO:0001819	synonymous_variant	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1011C>A	10.37:g.49440315G>T			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.S337	ENST00000374201.3	37	c.1011	CCDS31195.1	10																																																																																			0	NULL		0.433	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	36	254	0	0.78	0	2	G	NM_152428	0	0		49440315	-1	no_errors	ENST00000374201	ensembl	human	known	74_37	silent	23	207	17.86	26.33	5	74	SNP	0.007	T
WDFY4	57705	genome.wustl.edu	37	10	50028336	50028336	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:50028336G>A	ENST00000325239.5	+	32	5590	c.5563G>A	c.(5563-5565)Gac>Aac	p.D1855N	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1855						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						AGCTGAAGGCGACAGCACAGT	0.637																																							0											0													32.0	39.0	37.0					10																	50028336		692	1591	2283	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.5563G>A	10.37:g.50028336G>A	ENSP00000320563:p.Asp1855Asn		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1855N	ENST00000325239.5	37	c.5563	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.025301|2.025301	0.35701|0.35701	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239|ENST00000312002;ENST00000374161	T|.	0.56941|.	0.43|.	5.56|5.56	-2.73|-2.73	0.05950|0.05950	.|.	0.998951|.	0.08099|.	N|.	0.998129|.	T|T	0.35913|0.35913	0.0948|0.0948	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.39941|0.39941	-0.9589|-0.9589	9|5	.|.	.|.	.|.	.|.	1.8678|1.8678	0.03202|0.03202	0.3633:0.2133:0.3144:0.109|0.3633:0.2133:0.3144:0.109	.|.	383;1855|.	F2Z372;Q6ZS81|.	.;WDFY4_HUMAN|.	N|Q	1855|945;401	ENSP00000320563:D1855N|.	.|.	D|R	+|+	1|2	0|0	WDFY4|WDFY4	49698342|49698342	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.664000|-0.664000	0.05292|0.05292	-0.176000|-0.176000	0.10707|0.10707	0.591000|0.591000	0.81541|0.81541	GAC|CGA	0	NULL		0.637	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	protein_coding		43	61	0	0.00	0	0	G	XM_033379	0	0		50028336	1	no_errors	ENST00000325239	ensembl	human	known	74_37	missense	28	37	22.22	26.00	8	13	SNP	0	A
C10orf71	118461	genome.wustl.edu	37	10	50532273	50532273	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:50532273C>T	ENST00000374144.3	+	3	1971	c.1683C>T	c.(1681-1683)ccC>ccT	p.P561P	C10orf71_ENST00000323868.4_Silent_p.P561P			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	561										endometrium(1)	1						AGGAGAGACCCGCTGATGACC	0.532																																							0											0													51.0	53.0	52.0					10																	50532273		1990	4154	6144	SO:0001819	synonymous_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1683C>T	10.37:g.50532273C>T			A0AVL8	Silent	SNP	NULL	p.P561	ENST00000374144.3	37	c.1683	CCDS44387.1	10																																																																																			0	NULL		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	20	176	0	0.00	0	0	C	NM_199459	0	0		50532273	1	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	22	118	15.38	32.18	4	56	SNP	0	T
OGDHL	55753	genome.wustl.edu	37	10	50946024	50946024	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:50946024C>T	ENST00000374103.4	-	19	2571	c.2486G>A	c.(2485-2487)cGc>cAc	p.R829H	OGDHL_ENST00000419399.1_Missense_Mutation_p.R772H|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.R620H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	829					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GATCTGCCGGCGCAGCACGTG	0.652																																							0											0													170.0	162.0	165.0					10																	50946024		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2486G>A	10.37:g.50946024C>T	ENSP00000363216:p.Arg829His		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R829H	ENST00000374103.4	37	c.2486	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.393228	0.96009	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.92495	-3.05;-3.05;-3.05	4.84	4.84	0.62591	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.988;0.997	D	0.99585	1.0974	10	0.87932	D	0	.	17.9498	0.89048	0.0:1.0:0.0:0.0	.	772;620;829	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	829;772;620	ENSP00000363216:R829H;ENSP00000401356:R772H;ENSP00000390240:R620H	ENSP00000363216:R829H	R	-	2	0	OGDHL	50616030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.805000	0.86005	2.222000	0.72286	0.650000	0.86243	CGC	0	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.652	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	56	74	0	0.00	0	0	C	NM_018245	0	0		50946024	-1	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	48	48	21.31	27.27	13	18	SNP	1	T
ANK3	288	genome.wustl.edu	37	10	61840358	61840358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:61840358G>A	ENST00000280772.2	-	36	4560	c.4369C>T	c.(4369-4371)Cga>Tga	p.R1457*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1449*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1442*|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R582*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1457					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGCTCTGTCGTCTATCTGTT	0.388																																							0											0													88.0	80.0	83.0					10																	61840358		2203	4300	6503	SO:0001587	stop_gained	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4369C>T	10.37:g.61840358G>A	ENSP00000280772:p.Arg1457*		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R1457*	ENST00000280772.2	37	c.4369	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.863390	0.99702	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304	.	.	.	5.36	5.36	0.76844	.	0.000000	0.34628	N	0.003814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0941	0.93242	0.0:0.0:1.0:0.0	.	.	.	.	X	1457;1442;40;582;582;1449;1428;683;1083;1083	.	ENSP00000280772:R1457X	R	-	1	2	ANK3	61510364	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.767000	0.74975	2.508000	0.84585	0.563000	0.77884	CGA	0	NULL		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	58	88	0	0.00	0	0	G	NM_020987	0	0		61840358	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	nonsense	40	94	18.37	25.20	9	32	SNP	1	A
ANK3	288	genome.wustl.edu	37	10	61843307	61843307	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:61843307C>T	ENST00000280772.2	-	33	4334	c.4143G>A	c.(4141-4143)caG>caA	p.Q1381Q	ANK3_ENST00000503366.1_Silent_p.Q1382Q|ANK3_ENST00000373827.2_Silent_p.Q1375Q|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Silent_p.Q515Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1381	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAACAAGTTGCTGTCCTCCTT	0.313																																							0											0													52.0	54.0	53.0					10																	61843307		2202	4293	6495	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4143G>A	10.37:g.61843307C>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.Q1381	ENST00000280772.2	37	c.4143	CCDS7258.1	10																																																																																			0	NULL		0.313	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	153	397	0	0.00	0	0	C	NM_020987	0	0		61843307	-1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	90	273	30.77	35.68	40	152	SNP	1	T
DNA2	1763	genome.wustl.edu	37	10	70182065	70182065	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:70182065A>T	ENST00000358410.3	-	17	2664	c.2614T>A	c.(2614-2616)Ttt>Att	p.F872I	DNA2_ENST00000399180.2_Missense_Mutation_p.F958I|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	872	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCAGCATAAAATTCCAGTTCC	0.388																																							0											0													86.0	83.0	84.0					10																	70182065		1886	4114	6000	SO:0001583	missense	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2614T>A	10.37:g.70182065A>T	ENSP00000351185:p.Phe872Ile		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase	p.F958I	ENST00000358410.3	37	c.2872		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.12|11.12	1.545599|1.545599	0.27652|0.27652	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.91740|.	-2.9;-2.87|.	4.93|4.93	-0.758|-0.758	0.11049|0.11049	.|.	1.020610|.	0.07797|.	N|.	0.955912|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.16368|0.16368	0.405|0.405	0.09310|0.09310	N|N	0.999992|0.999992	B|.	0.09022|.	0.002|.	B|.	0.12156|.	0.007|.	T|T	0.25257|0.25257	-1.0137|-1.0137	10|5	0.27785|.	T|.	0.31|.	.|.	2.9845|2.9845	0.05964|0.05964	0.5759:0.1605:0.1627:0.1009|0.5759:0.1605:0.1627:0.1009	.|.	872|.	P51530|.	DNA2L_HUMAN|.	I|N	958;872|193	ENSP00000382133:F958I;ENSP00000351185:F872I|.	ENSP00000351185:F872I|.	F|I	-|-	1|2	0|0	DNA2|DNA2	69852071|69852071	0.156000|0.156000	0.22821|0.22821	0.999000|0.999000	0.59377|0.59377	0.962000|0.962000	0.63368|0.63368	0.405000|0.405000	0.21015|0.21015	0.177000|0.177000	0.19895|0.19895	0.533000|0.533000	0.62120|0.62120	TTT|ATT	0	superfamily_P-loop_NTPase		0.388	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	protein_coding	OTTHUMT00000048334.2	65	333	0	0.30	0	1	A		0	0		70182065	-1	no_errors	ENST00000399180	ensembl	human	known	74_37	missense	48	236	21.31	29.55	13	99	SNP	0.118	T
TET1	80312	genome.wustl.edu	37	10	70404878	70404878	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:70404878G>A	ENST00000373644.4	+	4	2601	c.2392G>A	c.(2392-2394)Gca>Aca	p.A798T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	798					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAAGACACTGCAAACCATAA	0.348																																							0											0													82.0	83.0	83.0					10																	70404878		2203	4300	6503	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2392G>A	10.37:g.70404878G>A	ENSP00000362748:p.Ala798Thr		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A798T	ENST00000373644.4	37	c.2392	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045400	0.19748	.	.	ENSG00000138336	ENST00000373644	T	0.07114	3.22	5.92	1.42	0.22433	.	0.830589	0.10477	N	0.670044	T	0.03477	0.0100	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.47861	-0.9084	10	0.10377	T	0.69	.	2.9255	0.05783	0.3432:0.0:0.4527:0.2041	.	798	Q8NFU7	TET1_HUMAN	T	798	ENSP00000362748:A798T	ENSP00000362748:A798T	A	+	1	0	TET1	70074884	0.000000	0.05858	0.031000	0.17742	0.878000	0.50629	0.023000	0.13533	0.386000	0.24997	0.650000	0.86243	GCA	0	NULL		0.348	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	51	279	1.92	0.36	1	1	G	NM_030625	0	0		70404878	1	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	33	250	25	25.15	11	84	SNP	0.001	A
TET1	80312	genome.wustl.edu	37	10	70406647	70406647	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:70406647A>G	ENST00000373644.4	+	4	4370	c.4161A>G	c.(4159-4161)acA>acG	p.T1387T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1387					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTTTCCACAGTGGACAGTG	0.368																																							0											0													87.0	89.0	88.0					10																	70406647		2203	4300	6503	SO:0001819	synonymous_variant	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4161A>G	10.37:g.70406647A>G			Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.T1387	ENST00000373644.4	37	c.4161	CCDS7281.1	10																																																																																			0	NULL		0.368	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	97	299	0	0.00	0	0	A	NM_030625	0	0		70406647	1	no_errors	ENST00000373644	ensembl	human	known	74_37	silent	71	216	19.32	26.51	17	79	SNP	0.026	G
ZSWIM8	23053	genome.wustl.edu	37	10	75556851	75556851	+	Intron	SNP	G	G	A	rs138567501	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:75556851G>A	ENST00000605216.1	+	17	3476				RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000398706.2_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8								zinc ion binding (GO:0008270)										TCATCCCAGCGTCCTGTTTTC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		18872	0.001		0.0	False		,,,				2504	0.001						0											0								G	,,	0,3882		0,0,1941	28.0	29.0	29.0		,,	2.9	0.2	10	dbSNP_134	29	1,8265		0,1,4132	no	intron,intron,intron	KIAA0913	NM_001242487.1,NM_001242488.1,NM_015037.3	,,	0,1,6073	AA,AG,GG		0.0121,0.0,0.0082	,,	,,	75556851	1,12147	1941	4133	6074	SO:0001627	intron_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3260-20G>A	10.37:g.75556851G>A			B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	RNA	SNP	0	NULL	ENST00000605216.1	37	NULL		10																																																																																			0	0		0.577	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8-AS1	protein_coding	OTTHUMT00000468545.1	37	177	0	0.00	0	0	G	NM_001242487	rs138567501	G->A		75556851	-1	no_errors	ENST00000456638	ensembl	human	known	74_37	rna	23	134	32.35	32.66	11	65	SNP	0	A
NUTM2B	729262	genome.wustl.edu	37	10	81463611	81463611	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:81463611T>A	ENST00000429828.1	+	1	629	c.246T>A	c.(244-246)ttT>ttA	p.F82L	NUTM2B_ENST00000372321.1_Missense_Mutation_p.F15L|RP11-119F19.2_ENST00000600376.1_RNA|RP11-119F19.2_ENST00000601369.1_RNA|NUTM2B_ENST00000448135.1_Missense_Mutation_p.F82L|RP11-119F19.2_ENST00000596088.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	82																	CTTTCAAATTTTCCCTGTTTC	0.542																																							0											0																																										SO:0001583	missense	0				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.246T>A	10.37:g.81463611T>A	ENSP00000394623:p.Phe82Leu		A6NM73	Missense_Mutation	SNP	NULL	p.F82L	ENST00000429828.1	37	c.246		10	.	.	.	.	.	.	.	.	.	.	.	7.993	0.753639	0.15778	.	.	ENSG00000188199	ENST00000448135;ENST00000429828;ENST00000372321	T;T;T	0.20738	2.05;2.86;2.06	1.37	0.172	0.15031	.	.	.	.	.	T	0.15349	0.0370	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28870	-1.0030	6	0.39692	T	0.17	.	3.3806	0.07254	0.0:0.2332:0.0:0.7668	.	.	.	.	L	82;82;15	ENSP00000391631:F82L;ENSP00000394623:F82L;ENSP00000361396:F15L	ENSP00000361396:F15L	F	+	3	2	FAM22B	81133617	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	1.679000	0.37597	0.101000	0.17610	0.000000	0.15137	TTT	0	NULL		0.542	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	NUTM2B	protein_coding		46	12	0	0.00	0	0	T	NG_012780	0	0		81463611	1	no_errors	ENST00000429828	ensembl	human	known	74_37	missense	18	14	30.77	17.65	8	3	SNP	0	A
RGR	5995	genome.wustl.edu	37	10	86017732	86017732	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:86017732C>T	ENST00000359452.4	+	6	764	c.726C>T	c.(724-726)gaC>gaT	p.D242D	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	238					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TCATCGCAGACGTGACTTCCA	0.507																																					NSCLC(15;204 545 5889 6385 32445)		0											0													88.0	76.0	80.0					10																	86017732		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.726C>T	10.37:g.86017732C>T			A6NKK7|Q96FC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn	p.D242	ENST00000359452.4	37	c.726	CCDS7374.1	10																																																																																			0	pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR		0.507	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	protein_coding	OTTHUMT00000049116.1	33	128	0	0.00	0	0	C	NM_002921	0	0		86017732	1	no_errors	ENST00000359452	ensembl	human	known	74_37	silent	21	107	43.24	33.12	16	53	SNP	0.043	T
TNKS2	80351	genome.wustl.edu	37	10	93590871	93590871	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:93590871C>A	ENST00000371627.4	+	11	1587	c.1208C>A	c.(1207-1209)cCt>cAt	p.P403H		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	403					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTCTTGACTCCTCTGCACGTG	0.333																																							0											0													196.0	189.0	191.0					10																	93590871		2203	4300	6503	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1208C>A	10.37:g.93590871C>A	ENSP00000360689:p.Pro403His		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.P403H	ENST00000371627.4	37	c.1208	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848431	0.91277	.	.	ENSG00000107854	ENST00000371627	T	0.71461	-0.57	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000011	D	0.90628	0.7061	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93299	0.6675	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	403	Q9H2K2	TNKS2_HUMAN	H	403	ENSP00000360689:P403H	ENSP00000360689:P403H	P	+	2	0	TNKS2	93580851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.718000	0.92993	0.655000	0.94253	CCT	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.333	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	protein_coding	OTTHUMT00000049374.1	57	223	0	0.00	0	0	C	NM_025235	0	0		93590871	1	no_errors	ENST00000371627	ensembl	human	known	74_37	missense	43	213	20.37	25.61	11	74	SNP	1	A
EXOC6	54536	genome.wustl.edu	37	10	94608366	94608366	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:94608366A>T	ENST00000260762.6	+	1	90	c.76A>T	c.(76-78)Acc>Tcc	p.T26S	EXOC6_ENST00000371547.4_Intron|EXOC6_ENST00000443748.2_Missense_Mutation_p.T26S|EXOC6_ENST00000371552.4_Intron|EXOC6_ENST00000371543.1_Missense_Mutation_p.T26S	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	26					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GAGCACCGACACCGCCTGTGT	0.692																																							0											0													34.0	25.0	28.0					10																	94608366		2196	4292	6488	SO:0001583	missense	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.76A>T	10.37:g.94608366A>T	ENSP00000260762:p.Thr26Ser		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.T26S	ENST00000260762.6	37	c.76	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	A	10.29	1.308866	0.23821	.	.	ENSG00000138190	ENST00000371543;ENST00000443748;ENST00000260762	T;T	0.30182	1.54;1.94	3.94	3.94	0.45596	.	0.290655	0.30676	N	0.009108	T	0.33440	0.0863	N	0.26042	0.785	0.27186	N	0.960546	P;B	0.52842	0.956;0.003	P;B	0.62184	0.899;0.017	T	0.10428	-1.0630	10	0.09084	T	0.74	-3.8981	12.0605	0.53561	1.0:0.0:0.0:0.0	.	26;26	E7EW84;Q8TAG9	.;EXOC6_HUMAN	S	26	ENSP00000396206:T26S;ENSP00000260762:T26S	ENSP00000260762:T26S	T	+	1	0	EXOC6	94598346	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.123000	0.71614	1.549000	0.49425	0.260000	0.18958	ACC	0	pirsf_Sec15		0.692	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	protein_coding	OTTHUMT00000049410.2	41	96	0	0.00	0	0	A	NM_019053	0	0		94608366	1	no_errors	ENST00000260762	ensembl	human	known	74_37	missense	17	45	46.88	45.88	15	39	SNP	1	T
CYP26A1	1592	genome.wustl.edu	37	10	94833787	94833787	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:94833787C>T	ENST00000224356.4	+	1	141	c.96C>T	c.(94-96)tgC>tgT	p.C32C	CYP26A1_ENST00000371531.1_Intron|CYP26A1_ENST00000394139.1_5'UTR	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	32					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ACCTGTACTGCGTGAGCGGCC	0.657																																							0											0													23.0	25.0	25.0					10																	94833787		2201	4299	6500	SO:0001819	synonymous_variant	0			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.96C>T	10.37:g.94833787C>T			B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.C32	ENST00000224356.4	37	c.96	CCDS7426.1	10																																																																																			0	NULL		0.657	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	protein_coding	OTTHUMT00000049408.3	93	71	0	0.00	0	0	C		0	0		94833787	1	no_errors	ENST00000224356	ensembl	human	known	74_37	silent	61	51	29.07	23.88	25	16	SNP	0.987	T
SORBS1	10580	genome.wustl.edu	37	10	97116729	97116729	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:97116729C>T	ENST00000607232.1	-	18	1729	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S	SORBS1_ENST00000371227.4_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371247.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000353505.5_Intron					sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAAGGATTTCCGAAATGCAGG	0.507																																							0											0																																										SO:0001819	synonymous_variant	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000607232.1:c.1563G>A	10.37:g.97116729C>T				Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.S521	ENST00000607232.1	37	c.1563		10																																																																																			0	NULL		0.507	SORBS1-017	KNOWN	not_organism_supported|basic	protein_coding	SORBS1	protein_coding	OTTHUMT00000468280.1	33	154	2.94	0.00	1	0	C		0	0		97116729	-1	no_errors	ENST00000607232	ensembl	human	known	74_37	silent	21	145	32.26	30.95	10	65	SNP	0.551	T
ABCC2	1244	genome.wustl.edu	37	10	101604103	101604103	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:101604103C>T	ENST00000370449.4	+	28	3981	c.3868C>T	c.(3868-3870)Cct>Tct	p.P1290S		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1290					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGATAAGAGGCCTCCGCCAGA	0.532																																							0											0													94.0	88.0	90.0					10																	101604103		2203	4300	6503	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3868C>T	10.37:g.101604103C>T	ENSP00000359478:p.Pro1290Ser		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.P1290S	ENST00000370449.4	37	c.3868	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.088280	0.94100	.	.	ENSG00000023839	ENST00000370449	D	0.90261	-2.64	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95112	0.8239	10	0.87932	D	0	-3.2719	20.04	0.97581	0.0:1.0:0.0:0.0	.	1290	Q92887	MRP2_HUMAN	S	1290	ENSP00000359478:P1290S	ENSP00000359478:P1290S	P	+	1	0	ABCC2	101594093	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	7.523000	0.81856	2.733000	0.93635	0.655000	0.94253	CCT	0	superfamily_P-loop_NTPase,tigrfam_Multidrug-R_assoc		0.532	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	protein_coding	OTTHUMT00000049825.1	41	161	0	0.00	0	0	C	NM_000392	0	0		101604103	1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	28	124	25.64	28.74	10	50	SNP	1	T
DNMBP	23268	genome.wustl.edu	37	10	101636972	101636972	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:101636972G>A	ENST00000324109.4	-	17	4761	c.4670C>T	c.(4669-4671)gCt>gTt	p.A1557V	DNMBP_ENST00000342239.3_Missense_Mutation_p.A1581V|DNMBP_ENST00000543621.1_Missense_Mutation_p.A803V|DNMBP_ENST00000540316.1_Missense_Mutation_p.A493V	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1557	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTTAACCTCAGCTAACCACCA	0.498																																							0											0													215.0	177.0	190.0					10																	101636972		2203	4300	6503	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4670C>T	10.37:g.101636972G>A	ENSP00000315659:p.Ala1557Val		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.A1581V	ENST00000324109.4	37	c.4742	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428474	0.83667	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.99	4.99	0.66335	Src homology-3 domain (4);	0.000000	0.47093	D	0.000244	T	0.55162	0.1903	L	0.35542	1.07	0.47659	D	0.999487	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.979;0.941	T	0.55283	-0.8165	10	0.46703	T	0.11	-13.441	18.6352	0.91376	0.0:0.0:1.0:0.0	.	1557;803;1581	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	V	1581;1557;803;803;493	ENSP00000344914:A1581V;ENSP00000315659:A1557V;ENSP00000443657:A803V;ENSP00000443573:A493V	ENSP00000315659:A1557V	A	-	2	0	DNMBP	101626962	1.000000	0.71417	0.894000	0.35097	0.884000	0.51177	4.129000	0.57957	2.464000	0.83262	0.491000	0.48974	GCT	0	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	protein_coding	OTTHUMT00000049832.2	103	222	0	0.45	0	1	G	NM_015221	0	0		101636972	-1	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	76	193	25.49	29.45	26	81	SNP	0.996	A
COL17A1	1308	genome.wustl.edu	37	10	105803591	105803591	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:105803591A>G	ENST00000353479.5	-	34	2716	c.2426T>C	c.(2425-2427)gTg>gCg	p.V809A	COL17A1_ENST00000369733.3_Missense_Mutation_p.V809A	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	809	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACCCGAAGTCACGATCTTGCC	0.517																																							0											0													131.0	121.0	124.0					10																	105803591		2203	4300	6503	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2426T>C	10.37:g.105803591A>G	ENSP00000340937:p.Val809Ala		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.V809A	ENST00000353479.5	37	c.2426	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223587	0.58668	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93906	-3.31;-3.31	5.31	4.19	0.49359	.	0.521154	0.15803	N	0.243864	D	0.83330	0.5231	N	0.04335	-0.225	0.23834	N	0.996712	B	0.23650	0.089	B	0.32211	0.142	T	0.70930	-0.4738	10	0.14252	T	0.57	0.0825	7.9807	0.30181	0.9071:0.0:0.0929:0.0	.	809	Q9UMD9	COHA1_HUMAN	A	809	ENSP00000340937:V809A;ENSP00000358748:V809A	ENSP00000340937:V809A	V	-	2	0	COL17A1	105793581	0.069000	0.21087	0.035000	0.18076	0.943000	0.58893	3.854000	0.55949	0.969000	0.38237	0.454000	0.30748	GTG	0	NULL		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	38	178	0	0.00	0	0	A	NM_130778, NM_000494	0	0		105803591	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	33	151	25	28.44	11	60	SNP	0.153	G
CCDC172	374355	genome.wustl.edu	37	10	118084848	118084848	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:118084848T>A	ENST00000333254.3	+	3	364	c.113T>A	c.(112-114)aTt>aAt	p.I38N	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	38																	CGTGAAAAAATTAAGAAAGCA	0.338																																							0											0													64.0	70.0	68.0					10																	118084848		2203	4300	6503	SO:0001583	missense	0			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.113T>A	10.37:g.118084848T>A	ENSP00000329860:p.Ile38Asn			Missense_Mutation	SNP	NULL	p.I38N	ENST00000333254.3	37	c.113	CCDS31291.1	10	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591678	0.66219	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.49	5.49	0.81192	.	0.260691	0.37483	N	0.002077	T	0.67258	0.2874	M	0.72118	2.19	0.37430	D	0.913975	P	0.48503	0.911	P	0.52554	0.702	T	0.75739	-0.3212	9	0.87932	D	0	-11.8394	12.2707	0.54704	0.0:0.0:0.0:1.0	.	38	P0C7W6	CJ096_HUMAN	N	38	.	ENSP00000329860:I38N	I	+	2	0	C10orf96	118074838	0.970000	0.33590	0.539000	0.28077	0.757000	0.42996	2.550000	0.45811	2.207000	0.71202	0.533000	0.62120	ATT	0	NULL		0.338	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	protein_coding	OTTHUMT00000050516.2	106	195	0	0.00	0	0	T	NM_198515	0	0		118084848	1	no_errors	ENST00000333254	ensembl	human	known	74_37	missense	67	168	31.63	32.94	31	83	SNP	0.959	A
TACC2	10579	genome.wustl.edu	37	10	123842741	123842741	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:123842741G>A	ENST00000369005.1	+	4	1066	c.726G>A	c.(724-726)ggG>ggA	p.G242G	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.G242G|TACC2_ENST00000334433.3_Silent_p.G242G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.G242G|TACC2_ENST00000515273.1_Silent_p.G242G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	242					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGGCAGGGGGTGGCTTCTG	0.627																																							0											0													33.0	39.0	37.0					10																	123842741		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.726G>A	10.37:g.123842741G>A			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.G242	ENST00000369005.1	37	c.726	CCDS7626.1	10																																																																																			0	NULL		0.627	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	41	78	0	0.00	0	0	G		0	0		123842741	1	no_errors	ENST00000334433	ensembl	human	known	74_37	silent	22	54	33.33	26.03	11	19	SNP	0	A
JAKMIP3	282973	genome.wustl.edu	37	10	133981517	133981517	+	3'UTR	SNP	C	C	T	rs142883148		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:133981517C>T	ENST00000298622.4	+	0	2756				JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAAAATGGGACGTCGCGTCTC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		14549	0.0		0.001	False		,,,				2504	0.0						0											0																																										SO:0001624	3_prime_UTR_variant	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.*83C>T	10.37:g.133981517C>T			A6PW00|Q69YM6|Q6ZT29	RNA	SNP	0	NULL	ENST00000298622.4	37	NULL	CCDS44494.1	10																																																																																			0	0		0.582	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	protein_coding	OTTHUMT00000051049.3	13	161	0	0.00	0	0	C	NM_194303	rs142883148	C->T		133981517	1	no_errors	ENST00000477275	ensembl	human	known	74_37	rna	10	110	44.44	28.39	8	44	SNP	0	T
CFAP46	54777	genome.wustl.edu	37	10	134659597	134659597	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:134659597G>A	ENST00000368586.5	-	44	6502	c.6402C>T	c.(6400-6402)ggC>ggT	p.G2134G	TTC40_ENST00000263170.5_Silent_p.G295G	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCACACGGGCGCCCAGGCTGG	0.667																																							0											0													24.0	26.0	26.0					10																	134659597		2197	4299	6496	SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.6402C>T	10.37:g.134659597G>A				Silent	SNP	NULL	p.G295	ENST00000368586.5	37	c.885	CCDS58101.1	10																																																																																			0	NULL		0.667	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	protein_coding	OTTHUMT00000051095.3	65	45	0	0.00	0	0	G		0	0		134659597	-1	no_errors	ENST00000263170	ensembl	human	known	74_37	silent	26	34	46.94	30.61	23	15	SNP	0	A
CFAP46	54777	genome.wustl.edu	37	10	134680891	134680891	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:134680891G>A	ENST00000368586.5	-	34	4831	c.4731C>T	c.(4729-4731)gaC>gaT	p.D1577D		NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGTCCTTGGCGTCCAGTGGTT	0.572																																							0											0																																										SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.4731C>T	10.37:g.134680891G>A				Silent	SNP	NULL	p.D1577	ENST00000368586.5	37	c.4731	CCDS58101.1	10																																																																																			0	NULL		0.572	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	protein_coding	OTTHUMT00000051095.3	31	208	0	0.00	0	0	G		0	0		134680891	-1	no_errors	ENST00000368586	ensembl	human	putative	74_37	silent	14	127	36.36	31.72	8	59	SNP	0	A
CARS	833	genome.wustl.edu	37	11	3039682	3039682	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:3039682T>C	ENST00000397111.5	-	13	1581	c.1336A>G	c.(1336-1338)Agc>Ggc	p.S446G	CARS_ENST00000401769.3_Missense_Mutation_p.S459G|CARS_ENST00000397114.3_Missense_Mutation_p.S436G|CARS_ENST00000380525.4_Missense_Mutation_p.S529G|CARS_ENST00000278224.9_Missense_Mutation_p.S446G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	446					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATGGTGTTGCTGGAGTAGTCC	0.592			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)		0		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													70.0	59.0	63.0					11																	3039682		2202	4298	6500	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1336A>G	11.37:g.3039682T>C	ENSP00000380300:p.Ser446Gly		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.S529G	ENST00000397111.5	37	c.1585	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850182	0.32699	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.44482	0.92;0.93;0.93;0.93;0.93	4.9	2.59	0.31030	.	0.261107	0.43260	D	0.000593	T	0.34454	0.0898	L	0.42581	1.335	0.37100	D	0.899854	B;B;B;B;B;B	0.28208	0.124;0.132;0.152;0.203;0.182;0.152	B;B;B;B;B;B	0.36766	0.068;0.158;0.232;0.149;0.132;0.232	T	0.31779	-0.9931	10	0.54805	T	0.06	-18.5093	4.3791	0.11284	0.1462:0.1688:0.0:0.685	.	459;529;446;446;529;436	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	G	529;446;446;436;459	ENSP00000369897:S529G;ENSP00000380300:S446G;ENSP00000278224:S446G;ENSP00000380303:S436G;ENSP00000384069:S459G	ENSP00000278224:S446G	S	-	1	0	CARS	2996258	0.381000	0.25140	0.653000	0.29593	0.750000	0.42670	0.598000	0.24074	0.730000	0.32425	0.533000	0.62120	AGC	0	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Cys-tRNA-ligase		0.592	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	protein_coding	OTTHUMT00000030117.4	32	102	0	0.00	0	0	T	NM_001751	0	0		3039682	-1	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	25	77	21.88	23.53	7	24	SNP	0.442	C
OR52J3	119679	genome.wustl.edu	37	11	5068663	5068663	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:5068663G>A	ENST00000380370.1	+	1	908	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCGAGAACGAGTGCTCTAT	0.383																																							0											0													54.0	51.0	52.0					11																	5068663		2201	4297	6498	SO:0001583	missense	0			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.908G>A	11.37:g.5068663G>A	ENSP00000369728:p.Arg303Gln		Q6IFE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R303Q	ENST00000380370.1	37	c.908	CCDS31370.1	11	.	.	.	.	.	.	.	.	.	.	G	7.402	0.632906	0.14322	.	.	ENSG00000205495	ENST00000380370	T	0.37752	1.18	4.19	-2.76	0.05896	.	1.063770	0.07513	N	0.909200	T	0.34978	0.0916	M	0.76433	2.335	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.28038	-1.0056	10	0.35671	T	0.21	.	7.3678	0.26783	0.4629:0.1136:0.4235:0.0	.	303	Q8NH60	O52J3_HUMAN	Q	303	ENSP00000369728:R303Q	ENSP00000369728:R303Q	R	+	2	0	OR52J3	5025239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.686000	0.05161	-1.334000	0.02244	-1.731000	0.00696	CGA	0	NULL		0.383	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	protein_coding	OTTHUMT00000142807.1	60	200	0	0.00	0	0	G	NM_001001916	0	0		5068663	1	no_errors	ENST00000380370	ensembl	human	known	74_37	missense	27	200	30.77	19.92	12	50	SNP	0	A
OR52A5	390054	genome.wustl.edu	37	11	5153619	5153619	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:5153619C>T	ENST00000307388.1	-	1	253	c.254G>A	c.(253-255)gGc>gAc	p.G85D		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	85					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCAGAAGATGCCTAACATTTT	0.403																																							0											0													65.0	61.0	63.0					11																	5153619		2201	4298	6499	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.254G>A	11.37:g.5153619C>T	ENSP00000303469:p.Gly85Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G85D	ENST00000307388.1	37	c.254	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884184	0.33255	.	.	ENSG00000171944	ENST00000307388	T	0.00382	7.61	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000208	T	0.00300	0.0009	L	0.46819	1.47	0.09310	N	1	P	0.40553	0.721	B	0.40134	0.32	T	0.48843	-0.8999	10	0.72032	D	0.01	.	6.6224	0.22810	0.2625:0.6523:0.0:0.0852	.	85	Q9H2C5	O52A5_HUMAN	D	85	ENSP00000303469:G85D	ENSP00000303469:G85D	G	-	2	0	OR52A5	5110195	0.000000	0.05858	1.000000	0.80357	0.878000	0.50629	-1.819000	0.01716	1.426000	0.47256	0.655000	0.94253	GGC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.403	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	protein_coding	OTTHUMT00000142823.1	59	182	0	0.00	0	0	C	NM_001005160	0	0		5153619	-1	no_errors	ENST00000307388	ensembl	human	known	74_37	missense	42	161	20.75	31.20	11	73	SNP	0	T
OR51V1	283111	genome.wustl.edu	37	11	5221246	5221246	+	Missense_Mutation	SNP	G	G	T	rs548436244		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:5221246G>T	ENST00000321255.1	-	1	684	c.685C>A	c.(685-687)Ctg>Atg	p.L229M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	229					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAGAATCAGGATGTAGGAG	0.433																																							0											0													82.0	79.0	80.0					11																	5221246		2201	4298	6499	SO:0001583	missense	0			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.685C>A	11.37:g.5221246G>T	ENSP00000321729:p.Leu229Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L229M	ENST00000321255.1	37	c.685	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	G	4.982	0.182345	0.09495	.	.	ENSG00000176742	ENST00000321255	T	0.41400	1.0	5.27	-9.88	0.00467	GPCR, rhodopsin-like superfamily (1);	0.540032	0.15287	N	0.270364	T	0.27098	0.0664	L	0.45352	1.415	0.09310	N	1	B	0.32382	0.368	B	0.35278	0.199	T	0.16100	-1.0414	10	0.59425	D	0.04	.	8.3599	0.32353	0.1212:0.075:0.1129:0.6909	.	229	Q9H2C8	O51V1_HUMAN	M	229	ENSP00000321729:L229M	ENSP00000321729:L229M	L	-	1	2	OR51V1	5177822	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.340000	0.02650	-2.302000	0.00657	-0.182000	0.12963	CTG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	protein_coding	OTTHUMT00000142965.1	47	146	0	0.00	0	0	G	NM_001004760	0	0		5221246	-1	no_errors	ENST00000321255	ensembl	human	known	74_37	missense	32	128	15.79	21.95	6	36	SNP	0	T
DNHD1	144132	genome.wustl.edu	37	11	6578413	6578413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:6578413C>T	ENST00000527990.2	+	23	7888	c.7888C>T	c.(7888-7890)Cga>Tga	p.R2630*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.R2630*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2630					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTCAGGCCTGCGAGGCACTTG	0.597																																							0											0													71.0	62.0	65.0					11																	6578413		692	1591	2283	SO:0001587	stop_gained	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.7888C>T	11.37:g.6578413C>T	ENSP00000436180:p.Arg2630*		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.R2630*	ENST00000527990.2	37	c.7888	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	47	13.163603	0.99724	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	.	.	.	5.28	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.084	0.48076	0.0:0.8477:0.0:0.1523	.	.	.	.	X	2630;2630;377	.	ENSP00000254579:R2630X	R	+	1	2	DNHD1	6534989	0.006000	0.16342	0.029000	0.17559	0.331000	0.28603	1.918000	0.40006	0.819000	0.34492	0.650000	0.86243	CGA	0	NULL		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	protein_coding	OTTHUMT00000384673.2	27	132	3.57	0.75	1	1	C	NM_144666	0	0		6578413	1	no_errors	ENST00000254579	ensembl	human	known	74_37	nonsense	16	104	23.81	27.27	5	39	SNP	0.009	T
ILK	3611	genome.wustl.edu	37	11	6632072	6632072	+	3'UTR	SNP	C	C	T	rs541609708		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:6632072C>T	ENST00000396751.2	+	0	2045				ILK_ENST00000299421.4_3'UTR|ILK_ENST00000537806.1_3'UTR|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000528995.1_3'UTR|TAF10_ENST00000531760.1_5'Flank|TAF10_ENST00000299424.4_Intron	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase						branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGATCAGCCCCGCCTGTCACA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20001	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0																																										SO:0001624	3_prime_UTR_variant	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.*230C>T	11.37:g.6632072C>T			B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	RNA	SNP	0	NULL	ENST00000396751.2	37	NULL	CCDS7768.1	11																																																																																			0	0		0.547	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	protein_coding	OTTHUMT00000384519.1	62	163	0	0.61	0	1	C	NM_004517	rs541609708	C->T		6632072	1	no_errors	ENST00000526318	ensembl	human	known	74_37	rna	38	146	26.92	21.39	14	40	SNP	0.999	T
DCHS1	8642	genome.wustl.edu	37	11	6654735	6654735	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:6654735G>T	ENST00000299441.3	-	5	2774	c.2363C>A	c.(2362-2364)cCc>cAc	p.P788H	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	788	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAAATATGGGTGGTGTGGG	0.567																																							0											0													55.0	45.0	48.0					11																	6654735		2201	4294	6495	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2363C>A	11.37:g.6654735G>T	ENSP00000299441:p.Pro788His		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P788H	ENST00000299441.3	37	c.2363	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123199	0.77436	.	.	ENSG00000166341	ENST00000299441	D	0.81579	-1.51	4.84	4.84	0.62591	Cadherin (4);Cadherin-like (1);	0.000000	0.45126	D	0.000393	D	0.93252	0.7850	H	0.97265	3.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.95181	0.8299	10	0.87932	D	0	.	15.611	0.76716	0.0:0.0:1.0:0.0	.	788	Q96JQ0	PCD16_HUMAN	H	788	ENSP00000299441:P788H	ENSP00000299441:P788H	P	-	2	0	DCHS1	6611311	1.000000	0.71417	0.963000	0.40424	0.955000	0.61496	8.713000	0.91408	2.676000	0.91093	0.561000	0.74099	CCC	0	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	protein_coding	OTTHUMT00000257258.1	32	138	0	0.00	0	0	G	NM_003737	0	0		6654735	-1	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	18	115	30.77	21.77	8	32	SNP	0.999	T
CTR9	9646	genome.wustl.edu	37	11	10789707	10789707	+	Splice_Site	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:10789707A>G	ENST00000361367.2	+	15	2385	c.1959A>G	c.(1957-1959)atA>atG	p.I653M		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	653					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAATGGCATAGGTGATTATA	0.343																																							0											0													74.0	79.0	77.0					11																	10789707		2201	4294	6495	SO:0001630	splice_region_variant	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1960+1A>G	11.37:g.10789707A>G			D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I653M	ENST00000361367.2	37	c.1959	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559102	0.45590	.	.	ENSG00000198730	ENST00000361367	T	0.74315	-0.83	5.72	1.78	0.24846	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.042244	0.85682	D	0.000000	T	0.80914	0.4715	M	0.87682	2.9	0.80722	D	1	P	0.40578	0.722	P	0.51101	0.659	T	0.78360	-0.2234	10	0.56958	D	0.05	-15.468	6.5803	0.22589	0.4898:0.2588:0.0:0.2514	.	653	Q6PD62	CTR9_HUMAN	M	653	ENSP00000355013:I653M	ENSP00000355013:I653M	I	+	3	3	CTR9	10746283	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.040000	0.30278	0.393000	0.25203	0.482000	0.46254	ATA	0	pfscan_TPR-contain_dom		0.343	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	protein_coding	OTTHUMT00000386215.1	53	250	0	0.00	0	0	A	NM_014633	0	0	Missense_Mutation	10789707	1	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	27	223	27.03	32.83	10	109	SNP	0.997	G
OTOG	340990	genome.wustl.edu	37	11	17594759	17594759	+	Missense_Mutation	SNP	G	G	A	rs527271032		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:17594759G>A	ENST00000399391.2	+	18	2251	c.2251G>A	c.(2251-2253)Gcc>Acc	p.A751T	OTOG_ENST00000399397.1_Missense_Mutation_p.A678T	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	751					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						CTGCCTGTGCGCCACACTGGC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		16369	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0																																										SO:0001583	missense	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.2251G>A	11.37:g.17594759G>A	ENSP00000382323:p.Ala751Thr		A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.A751T	ENST00000399391.2	37	c.2251	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	G	6.129	0.392061	0.11581	.	.	ENSG00000188162	ENST00000399391;ENST00000399397	T;T	0.76968	-1.06;-1.06	4.47	0.727	0.18254	.	0.105865	0.38959	U	0.001503	T	0.54351	0.1853	N	0.16833	0.445	0.31419	N	0.6746	.	.	.	.	.	.	T	0.48091	-0.9065	8	0.12430	T	0.62	.	4.3149	0.10988	0.2097:0.0:0.4297:0.3605	.	.	.	.	T	751;678	ENSP00000382323:A751T;ENSP00000382329:A678T	ENSP00000382323:A751T	A	+	1	0	OTOG	17551335	1.000000	0.71417	0.987000	0.45799	0.880000	0.50808	2.661000	0.46758	0.401000	0.25424	0.491000	0.48974	GCC	0	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.697	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	protein_coding		25	27	3.85	0.00	1	0	G		rs527271032	G->A		17594759	1	no_errors	ENST00000399391	ensembl	human	known	74_37	missense	12	14	47.83	33.33	11	7	SNP	1	A
KCNC1	3746	genome.wustl.edu	37	11	17757798	17757798	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:17757798C>T	ENST00000379472.3	+	1	279	c.249C>T	c.(247-249)tgC>tgT	p.C83C	KCNC1_ENST00000265969.6_Silent_p.C83C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCGACGTGTGCGGGCCGCTCT	0.677																																							0											0													43.0	43.0	43.0					11																	17757798		2200	4292	6492	SO:0001819	synonymous_variant	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.249C>T	11.37:g.17757798C>T			K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.C83	ENST00000379472.3	37	c.249	CCDS7827.1	11																																																																																			0	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3		0.677	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	protein_coding	OTTHUMT00000389389.1	81	10	0	0.00	0	0	C	NM_004976	0	0		17757798	1	no_errors	ENST00000265969	ensembl	human	known	74_37	silent	42	17	28.81	34.62	17	9	SNP	1	T
MRGPRX3	117195	genome.wustl.edu	37	11	18158926	18158926	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:18158926C>T	ENST00000396275.2	+	3	538	c.177C>T	c.(175-177)aaC>aaT	p.N59N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCGCAGGAACGCTGTCTCCA	0.587																																							0											0													118.0	111.0	114.0					11																	18158926		2200	4293	6493	SO:0001819	synonymous_variant	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.177C>T	11.37:g.18158926C>T			B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.N59	ENST00000396275.2	37	c.177	CCDS7830.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.587	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	29	46	0	0.00	0	0	C	NM_054031	0	0		18158926	1	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	17	44	26.09	38.03	6	27	SNP	0.304	T
SLC1A2	6506	genome.wustl.edu	37	11	35333816	35333816	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:35333816T>C	ENST00000278379.3	-	4	772	c.490A>G	c.(490-492)Agc>Ggc	p.S164G	SLC1A2_ENST00000606205.1_Missense_Mutation_p.S164G|SLC1A2_ENST00000395753.1_Missense_Mutation_p.S155G|SLC1A2_ENST00000395750.1_Missense_Mutation_p.S155G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	164					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GCATCCAGGCTGGACACTTCA	0.507																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)		0											0													220.0	204.0	210.0					11																	35333816		2202	4298	6500	SO:0001583	missense	0			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.490A>G	11.37:g.35333816T>C	ENSP00000278379:p.Ser164Gly		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.S164G	ENST00000278379.3	37	c.490	CCDS31459.1	11	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693560	0.88735	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	L	0.39147	1.195	0.80722	D	1	P;P	0.51147	0.942;0.891	P;P	0.54706	0.759;0.758	T	0.66791	-0.5834	10	0.72032	D	0.01	-23.1796	15.8865	0.79255	0.0:0.0:0.0:1.0	.	164;164	B4DQE9;P43004	.;EAA2_HUMAN	G	164;155;155;160	ENSP00000278379:S164G;ENSP00000379099:S155G;ENSP00000379102:S155G;ENSP00000406133:S160G	ENSP00000278379:S164G	S	-	1	0	SLC1A2	35290392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.003000	0.88520	2.165000	0.68154	0.379000	0.24179	AGC	0	pfam_Na-dicarboxylate_symporter		0.507	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	protein_coding	OTTHUMT00000258181.1	52	162	0	0.00	0	0	T	NM_004171	0	0		35333816	-1	no_errors	ENST00000278379	ensembl	human	known	74_37	missense	32	141	17.95	32.38	7	68	SNP	1	C
OR8J3	81168	genome.wustl.edu	37	11	55904926	55904926	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:55904926T>C	ENST00000301529.1	-	1	268	c.269A>G	c.(268-270)aAa>aGa	p.K90R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGAGGTAGTTTTCTTCTTTAC	0.418																																							0											0													137.0	134.0	135.0					11																	55904926		2201	4296	6497	SO:0001583	missense	0				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.269A>G	11.37:g.55904926T>C	ENSP00000301529:p.Lys90Arg		Q6IFB6|Q96RC2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K90R	ENST00000301529.1	37	c.269	CCDS31520.1	11	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086338	0.36855	.	.	ENSG00000167822	ENST00000301529	T	0.37584	1.19	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.262350	0.33515	N	0.004823	T	0.30103	0.0754	L	0.28400	0.85	0.09310	N	1	P	0.47762	0.9	P	0.49451	0.611	T	0.07751	-1.0756	10	0.54805	T	0.06	.	4.8218	0.13394	0.0:0.1096:0.1913:0.6991	.	90	Q8NGG0	OR8J3_HUMAN	R	90	ENSP00000301529:K90R	ENSP00000301529:K90R	K	-	2	0	OR8J3	55661502	0.000000	0.05858	0.027000	0.17364	0.652000	0.38707	0.487000	0.22356	1.268000	0.44264	0.240000	0.17902	AAA	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	protein_coding	OTTHUMT00000391542.1	52	62	0	0.00	0	0	T	NM_001004064	0	0		55904926	-1	no_errors	ENST00000301529	ensembl	human	known	74_37	missense	26	50	33.33	30.56	13	22	SNP	0.054	C
FTH1	2495	genome.wustl.edu	37	11	61735984	61735984	+	5'Flank	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:61735984G>T	ENST00000273550.7	-	0	0				FTH1_ENST00000532601.1_5'Flank|FTH1_ENST00000529191.1_5'Flank|FTH1_ENST00000529631.1_5'Flank|FTH1_ENST00000526640.1_5'Flank|AP003733.1_ENST00000601917.1_Nonsense_Mutation_p.G137*	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1						cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CCCACTCACAGGAGCTTCAGG	0.557																																							0											0																																										SO:0001631	upstream_gene_variant	0				CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794			11.37:g.61735984G>T	Exception_encountered		B3KNR5|Q3KRA8|Q3SWW1	Nonsense_Mutation	SNP	NULL	p.G137*	ENST00000273550.7	37	c.409	CCDS41655.1	11																																																																																			0	NULL		0.557	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269089	protein_coding	OTTHUMT00000388444.1	90	165	0	1.20	0	2	G	NM_002032	0	0		61735984	1	no_errors	ENST00000601917	ensembl	human	known	74_37	nonsense	51	121	21.54	28.40	14	48	SNP	0.002	T
INTS5	80789	genome.wustl.edu	37	11	62417152	62417152	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:62417152G>A	ENST00000330574.2	-	2	452	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	134					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGGTTGGCCCGGATAAACTCA	0.587																																							0											0													123.0	124.0	124.0					11																	62417152		2202	4299	6501	SO:0001583	missense	0			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.400C>T	11.37:g.62417152G>A	ENSP00000327889:p.Arg134Trp		Q8N6W5|Q9C0G5	Missense_Mutation	SNP	NULL	p.R134W	ENST00000330574.2	37	c.400	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529689	0.44969	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.74	4.74	0.60224	.	0.146930	0.44097	D	0.000490	T	0.28566	0.0707	L	0.36672	1.1	0.32784	N	0.502025	P	0.45594	0.862	B	0.34180	0.177	T	0.51293	-0.8724	9	0.72032	D	0.01	.	10.3276	0.43803	0.0:0.0:0.8039:0.1961	.	134	Q6P9B9	INT5_HUMAN	W	134	.	ENSP00000327889:R134W	R	-	1	2	INTS5	62173728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.588000	0.46137	2.463000	0.83235	0.650000	0.86243	CGG	0	NULL		0.587	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	protein_coding	OTTHUMT00000395327.1	24	150	0	0.00	0	0	G	NM_030628	0	0		62417152	-1	no_errors	ENST00000330574	ensembl	human	known	74_37	missense	15	112	21.05	26.32	4	40	SNP	1	A
NXF1	10482	genome.wustl.edu	37	11	62563546	62563546	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:62563546C>T	ENST00000532297.1	-	17	2082	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.A485T|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	485	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGTCTGGGCGCTTATGTCT	0.552																																							0											0													90.0	84.0	86.0					11																	62563546		2201	4299	6500	SO:0001583	missense	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1453G>A	11.37:g.62563546C>T	ENSP00000436679:p.Ala485Thr		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.A485T	ENST00000532297.1	37	c.1453	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554607	0.27739	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.64260	-0.09;-0.09;-0.09	5.95	5.05	0.67936	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.051060	0.85682	D	0.000000	T	0.40719	0.1128	N	0.20401	0.57	0.80722	D	1	B;P	0.40302	0.279;0.712	B;B	0.29353	0.101;0.074	T	0.32508	-0.9904	10	0.23302	T	0.38	-21.0269	12.9227	0.58241	0.0:0.9219:0.0:0.0781	.	528;485	E9PIN3;Q9UBU9	.;NXF1_HUMAN	T	485;485;528	ENSP00000294172:A485T;ENSP00000436679:A485T;ENSP00000435742:A528T	ENSP00000294172:A485T	A	-	1	0	NXF1	62320122	1.000000	0.71417	0.996000	0.52242	0.376000	0.30014	5.333000	0.65917	1.535000	0.49220	-0.136000	0.14681	GCC	0	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.552	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	protein_coding	OTTHUMT00000395365.2	51	144	0	0.00	0	0	C	NM_006362	0	0		62563546	-1	no_errors	ENST00000294172	ensembl	human	known	74_37	missense	29	122	23.68	27.22	9	46	SNP	1	T
RCOR2	283248	genome.wustl.edu	37	11	63682649	63682649	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:63682649C>T	ENST00000301459.4	-	3	653		c.e3+1		RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCCCCACTCACGCTTGGCATC	0.617																																							0											0													36.0	26.0	29.0					11																	63682649		2085	4079	6164	SO:0001630	splice_region_variant	0			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.265+1G>A	11.37:g.63682649C>T			Q96FP3	Splice_Site	SNP	0	e3+1	ENST00000301459.4	37	c.265+1	CCDS8052.1	11	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356718	0.61293	.	.	ENSG00000167771	ENST00000301459	.	.	.	4.53	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2573	0.54631	0.0:0.8278:0.1722:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RCOR2	63439225	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.791000	0.69045	1.037000	0.40024	-0.358000	0.07595	.	0	0		0.617	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCOR2	protein_coding	OTTHUMT00000318233.1	9	85	0	0.00	0	0	C	NM_173587	0	0	Intron	63682649	-1	no_errors	ENST00000301459	ensembl	human	known	74_37	splice_site	5	70	50	31.37	5	32	SNP	1	T
CDC42BPG	55561	genome.wustl.edu	37	11	64601226	64601226	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:64601226C>T	ENST00000342711.5	-	22	2548	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCGCAGGCTGCGTCGGCCCTC	0.682																																							0											0													38.0	42.0	40.0					11																	64601226		2201	4297	6498	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2549G>A	11.37:g.64601226C>T	ENSP00000345133:p.Arg850His			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R850H	ENST00000342711.5	37	c.2549	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552209	0.65311	.	.	ENSG00000171219	ENST00000342711	T	0.68479	-0.33	5.18	5.18	0.71444	.	0.000000	0.43260	D	0.000583	T	0.57814	0.2079	N	0.08118	0	0.35762	D	0.820246	D	0.67145	0.996	P	0.52710	0.707	T	0.69960	-0.5003	10	0.52906	T	0.07	.	14.5737	0.68229	0.0:1.0:0.0:0.0	.	850	Q6DT37	MRCKG_HUMAN	H	850	ENSP00000345133:R850H	ENSP00000345133:R850H	R	-	2	0	CDC42BPG	64357802	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	2.000000	0.40816	2.595000	0.87683	0.561000	0.74099	CGC	0	NULL		0.682	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	protein_coding	OTTHUMT00000105352.4	45	86	0	0.00	0	0	C	XM_290516	0	0		64601226	-1	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	20	74	31.03	23.71	9	23	SNP	1	T
MALAT1	378938	genome.wustl.edu	37	11	65269313	65269313	+	lincRNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:65269313G>A	ENST00000534336.1	+	0	4081					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTATTAAAGGGGAGGGGCAA	0.388																																							0											0													25.0	25.0	25.0					11																	65269313		874	1988	2862			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269313G>A				RNA	SNP	0	NULL	ENST00000534336.1	37	NULL		11																																																																																			0	0		0.388	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	lincRNA	OTTHUMT00000389143.1	112	299	0	0.66	0	2	G	NR_002819	0	0		65269313	1	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	44	217	29.03	31.97	18	102	SNP	1	A
MUS81	80198	genome.wustl.edu	37	11	65633355	65633355	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:65633355C>T	ENST00000308110.4	+	15	1928	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	MUS81_ENST00000525006.1_3'UTR|EFEMP2_ENST00000532648.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.R452C	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	527					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TAAGTGTGGGCGTCTACAGAG	0.627								Homologous recombination																															0											0													91.0	93.0	93.0					11																	65633355		2201	4296	6497	SO:0001583	missense	0				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.1579C>T	11.37:g.65633355C>T	ENSP00000307853:p.Arg527Cys		Q9H7D9	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain	p.R527C	ENST00000308110.4	37	c.1579	CCDS8115.1	11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283335	0.59867	.	.	ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855;ENST00000529742	T;T;T	0.48201	2.44;2.66;0.82	5.23	5.23	0.72850	.	0.394874	0.26058	N	0.026600	T	0.46502	0.1396	L	0.50333	1.59	0.47407	D	0.99941	D	0.63880	0.993	P	0.46208	0.507	T	0.49360	-0.8948	10	0.59425	D	0.04	-0.9938	11.3943	0.49832	0.1809:0.8191:0.0:0.0	.	527	Q96NY9	MUS81_HUMAN	C	452;527;527;60	ENSP00000432287:R452C;ENSP00000307853:R527C;ENSP00000435277:R60C	ENSP00000307853:R527C	R	+	1	0	MUS81	65389931	0.115000	0.22152	0.642000	0.29436	0.886000	0.51366	2.606000	0.46291	2.451000	0.82905	0.561000	0.74099	CGT	0	NULL		0.627	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUS81	protein_coding	OTTHUMT00000390941.3	59	126	0	0.00	0	0	C	NM_025128	0	0		65633355	1	no_errors	ENST00000308110	ensembl	human	known	74_37	missense	23	85	28.12	24.78	9	28	SNP	0.867	T
RIN1	9610	genome.wustl.edu	37	11	66103856	66103856	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:66103856C>T	ENST00000311320.4	-	1	144	c.18G>A	c.(16-18)gaG>gaA	p.E6E	RIN1_ENST00000530056.1_Intron|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_5'UTR	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	6					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCGCGCCTGACTCTCCAGGGC	0.612																																							0											0													18.0	21.0	20.0					11																	66103856		2199	4295	6494	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.18G>A	11.37:g.66103856C>T			O15010|Q00427|Q96CC8	Silent	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.E6	ENST00000311320.4	37	c.18	CCDS31614.1	11																																																																																			0	NULL		0.612	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	protein_coding	OTTHUMT00000392980.2	59	60	0	0.00	0	0	C	NM_004292	0	0		66103856	-1	no_errors	ENST00000311320	ensembl	human	known	74_37	silent	32	44	28.89	18.52	13	10	SNP	0.664	T
SUV420H1	51111	genome.wustl.edu	37	11	67925890	67925890	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:67925890C>T	ENST00000304363.4	-	11	2276	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	641					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AATCTGGTACCGCGTCGTCTT	0.507																																							0											0													82.0	74.0	76.0					11																	67925890		2200	4294	6494	SO:0001819	synonymous_variant	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1923G>A	11.37:g.67925890C>T			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.A641	ENST00000304363.4	37	c.1923	CCDS31623.1	11																																																																																			0	NULL		0.507	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	protein_coding	OTTHUMT00000318319.1	15	263	0	0.00	0	0	C	NM_017635	0	0		67925890	-1	no_errors	ENST00000304363	ensembl	human	known	74_37	silent	11	172	31.25	28.93	5	70	SNP	0	T
MRGPRF	116535	genome.wustl.edu	37	11	68773305	68773305	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:68773305C>T	ENST00000309099.6	-	3	855	c.473G>A	c.(472-474)cGc>cAc	p.R158H	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Missense_Mutation_p.R158H	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCCGACAGGCGCTTGGGCCG	0.716																																							0											0													7.0	10.0	9.0					11																	68773305		2101	4119	6220	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.473G>A	11.37:g.68773305C>T	ENSP00000309782:p.Arg158His		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R158H	ENST00000309099.6	37	c.473	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	C	3.472	-0.107742	0.06924	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.42513	0.97;0.97	4.86	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.152154	0.31177	N	0.008107	T	0.12347	0.0300	N	0.02368	-0.58	0.27807	N	0.942268	B	0.13594	0.008	B	0.10450	0.005	T	0.32798	-0.9893	10	0.02654	T	1	-37.8465	5.0704	0.14604	0.0:0.5543:0.0:0.4457	.	158	Q96AM1	MRGRF_HUMAN	H	158;158;130	ENSP00000403660:R158H;ENSP00000309782:R158H	ENSP00000309782:R158H	R	-	2	0	MRGPRF	68529881	0.001000	0.12720	1.000000	0.80357	0.988000	0.76386	-0.570000	0.05895	0.482000	0.27582	0.561000	0.74099	CGC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.716	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	protein_coding	OTTHUMT00000396875.1	34	47	0	0.00	0	0	C	NM_145015	0	0		68773305	-1	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	31	24	24.39	38.46	10	15	SNP	0.99	T
FGF3	2248	genome.wustl.edu	37	11	69625447	69625447	+	Missense_Mutation	SNP	C	C	T	rs79472069		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:69625447C>T	ENST00000334134.2	-	3	436	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	116					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TCCACAAACTCGCACTCGGCG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17189	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													38.0	43.0	41.0					11																	69625447		2197	4282	6479	SO:0001583	missense	0				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.346G>A	11.37:g.69625447C>T	ENSP00000334122:p.Glu116Lys		Q0VG69	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.E116K	ENST00000334134.2	37	c.346	CCDS8195.1	11	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.17	2.754654	0.49362	.	.	ENSG00000186895	ENST00000334134	T	0.65364	-0.15	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	N	0.10809	0.05	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63510	-0.6621	9	.	.	.	.	15.9315	0.79663	0.0:1.0:0.0:0.0	.	116	P11487	FGF3_HUMAN	K	116	ENSP00000334122:E116K	.	E	-	1	0	FGF3	69334628	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.111000	0.77077	1.714000	0.51371	0.462000	0.41574	GAG	0	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.657	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	protein_coding	OTTHUMT00000396835.1	51	106	0	0.00	0	0	C	NM_005247	rs79472069	C->T		69625447	-1	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	32	77	25.58	30.00	11	33	SNP	1	T
ANO1	55107	genome.wustl.edu	37	11	70007369	70007369	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:70007369C>T	ENST00000355303.5	+	17	1986	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	ANO1_ENST00000538023.1_Missense_Mutation_p.R561W|ANO1_ENST00000398543.2_Missense_Mutation_p.R415W|ANO1_ENST00000530676.1_Missense_Mutation_p.R415W|ANO1_ENST00000316296.5_Missense_Mutation_p.R503W|ANO1_ENST00000531349.1_Missense_Mutation_p.R270W	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTCCAACATCCGGGTCACAGT	0.587																																							0											0													95.0	99.0	98.0					11																	70007369		2172	4258	6430	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1681C>T	11.37:g.70007369C>T	ENSP00000347454:p.Arg561Trp		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.R561W	ENST00000355303.5	37	c.1681	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883076	0.72410	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.29	2.05	0.26809	.	0.150776	0.44688	D	0.000436	T	0.78641	0.4315	M	0.83953	2.67	0.49299	D	0.999771	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.967;0.989;0.987	T	0.82305	-0.0523	9	.	.	.	.	14.7155	0.69265	0.4432:0.5568:0.0:0.0	.	270;503;561	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	W	561;561;415;319;503;415;270;112	ENSP00000347454:R561W;ENSP00000444689:R561W;ENSP00000381551:R415W;ENSP00000319477:R503W;ENSP00000435797:R415W;ENSP00000432843:R270W;ENSP00000435868:R112W	.	R	+	1	2	ANO1	69685017	0.988000	0.35896	1.000000	0.80357	0.962000	0.63368	1.753000	0.38359	1.207000	0.43291	-0.169000	0.13324	CGG	0	pfam_Anoctamin		0.587	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	protein_coding	OTTHUMT00000393685.1	27	131	0	0.00	0	0	C	NM_018043	0	0		70007369	1	no_errors	ENST00000355303	ensembl	human	known	74_37	missense	18	113	30.77	27.10	8	42	SNP	1	T
P2RY2	5029	genome.wustl.edu	37	11	72945997	72945997	+	Missense_Mutation	SNP	C	C	T	rs148618782		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:72945997C>T	ENST00000311131.2	+	3	1260	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	P2RY2_ENST00000393597.2_Missense_Mutation_p.R265C|P2RY2_ENST00000393596.2_Missense_Mutation_p.R265C	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	265					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCACGTCACCCGCACCCTCTA	0.647																																							0											0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4400		0,0,2200	116.0	104.0	108.0		793,793,793	4.3	1.0	11	dbSNP_134	108	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	180,180,180	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	265/378,265/378,265/378	72945997	1,12985	2200	4293	6493	SO:0001583	missense	0			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.793C>T	11.37:g.72945997C>T	ENSP00000310305:p.Arg265Cys		B2R9W3|Q96EM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt	p.R265C	ENST00000311131.2	37	c.793	CCDS8219.1	11	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417509	0.83449	0.0	1.16E-4	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.38077	1.16;1.16;1.16	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81822	-0.0756	10	0.72032	D	0.01	.	16.0309	0.80577	0.0:1.0:0.0:0.0	.	265	P41231	P2RY2_HUMAN	C	265	ENSP00000377222:R265C;ENSP00000310305:R265C;ENSP00000377221:R265C	ENSP00000310305:R265C	R	+	1	0	P2RY2	72623645	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	3.833000	0.55790	2.092000	0.63282	0.561000	0.74099	CGC	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	protein_coding	OTTHUMT00000397336.1	20	97	0	0.00	0	0	C	NM_176072	rs148618782	C->T		72945997	1	no_errors	ENST00000311131	ensembl	human	known	74_37	missense	15	96	20	16.38	4	19	SNP	1	T
ARHGEF17	9828	genome.wustl.edu	37	11	73021101	73021101	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:73021101C>T	ENST00000263674.3	+	1	1768	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	473					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGACCCTGACGCTTCTCAGT	0.572																																							0											0													73.0	79.0	77.0					11																	73021101		2200	4293	6493	SO:0001583	missense	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1418C>T	11.37:g.73021101C>T	ENSP00000263674:p.Thr473Met		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.T473M	ENST00000263674.3	37	c.1418	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498986	0.64298	.	.	ENSG00000110237	ENST00000263674	T	0.62788	0.0	5.01	4.04	0.47022	.	0.087529	0.42053	D	0.000780	T	0.62048	0.2396	N	0.24115	0.695	0.29704	N	0.839908	D	0.89917	1.0	D	0.64410	0.925	T	0.59799	-0.7386	10	0.87932	D	0	-9.499	9.0058	0.36111	0.165:0.6749:0.1601:0.0	.	473	Q96PE2	ARHGH_HUMAN	M	473	ENSP00000263674:T473M	ENSP00000263674:T473M	T	+	2	0	ARHGEF17	72698749	1.000000	0.71417	0.978000	0.43139	0.653000	0.38743	4.619000	0.61218	2.315000	0.78130	0.462000	0.41574	ACG	0	NULL		0.572	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	protein_coding	OTTHUMT00000397365.1	102	163	0	0.00	0	0	C	NM_014786	0	0		73021101	1	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	64	133	32.63	28.88	31	54	SNP	0.987	T
NDUFC2	4718	genome.wustl.edu	37	11	77790746	77790746	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:77790746A>G	ENST00000281031.4	-	1	519	c.45T>C	c.(43-45)gaT>gaC	p.D15D	NDUFC2-KCTD14_ENST00000528251.1_Silent_p.D15D|NDUFC2-KCTD14_ENST00000530054.1_Silent_p.D15D|NDUFC2_ENST00000525085.1_Silent_p.D15D|NDUFC2_ENST00000527806.1_Silent_p.D15D|NDUFC2_ENST00000528164.1_Silent_p.D15D|NDUFC2_ENST00000534029.1_Silent_p.D15D	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1	O95298	NDUC2_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa	15					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		Carvedilol(DB01136)	TCCGGGCCTCATCCGGCAGAA	0.612																																							0											0													16.0	17.0	17.0					11																	77790746		2199	4291	6490	SO:0001819	synonymous_variant	0			AF087659	CCDS8257.1, CCDS55779.1, CCDS55781.1	11q14.1	2011-07-04	2002-08-29		ENSG00000151366	ENSG00000151366		"""Mitochondrial respiratory chain complex / Complex I"""	7706	protein-coding gene	gene with protein product	"""human lung cancer oncogene 1"", ""complex I subunit B14.5b"""	603845	"""NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)"""			9878551	Standard	NM_001204055		Approved	B14.5b, HLC-1		O95298		ENST00000281031.4:c.45T>C	11.37:g.77790746A>G			E9PNU8|E9PRB2|Q549M5|Q6FIH8|Q9UBJ9	Silent	SNP	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su	p.D15	ENST00000281031.4	37	c.45	CCDS8257.1	11																																																																																			0	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su		0.612	NDUFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFC2	protein_coding	OTTHUMT00000390821.1	9	36	0	0.00	0	0	A	NM_004549	0	0		77790746	-1	no_errors	ENST00000281031	ensembl	human	known	74_37	silent	4	45	50	25.00	4	15	SNP	0.778	G
TENM4	26011	genome.wustl.edu	37	11	78380640	78380640	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:78380640G>A	ENST00000278550.7	-	32	7212	c.6750C>T	c.(6748-6750)gaC>gaT	p.D2250D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2250					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTATTGCACGTCACCCAGCC	0.572																																							0											0													170.0	174.0	172.0					11																	78380640		2174	4266	6440	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6750C>T	11.37:g.78380640G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D2250	ENST00000278550.7	37	c.6750	CCDS44688.1	11																																																																																			0	NULL		0.572	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	27	77	0	0.00	0	0	G		0	0		78380640	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	silent	21	71	22.22	21.11	6	19	SNP	0.965	A
TENM4	26011	genome.wustl.edu	37	11	78383337	78383337	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:78383337C>T	ENST00000278550.7	-	31	5996	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1845					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCGTGTTACGCGATCAAAGTC	0.517																																							0											0													91.0	90.0	90.0					11																	78383337		1945	4155	6100	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5534G>A	11.37:g.78383337C>T	ENSP00000278550:p.Arg1845His		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1845H	ENST00000278550.7	37	c.5534	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553580	0.65425	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90324	-2.65;0.77	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92704	0.6177	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1845	Q6N022	TEN4_HUMAN	H	1845;309	ENSP00000278550:R1845H;ENSP00000431711:R309H	.	R	-	2	0	ODZ4	78060985	1.000000	0.71417	0.977000	0.42913	0.032000	0.12392	5.928000	0.70088	2.941000	0.99782	0.655000	0.94253	CGC	0	NULL		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	38	178	0	0.00	0	0	C		0	0		78383337	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	32	133	27.27	27.72	12	51	SNP	1	T
DLG2	1740	genome.wustl.edu	37	11	83984195	83984195	+	Splice_Site	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:83984195G>A	ENST00000418306.2	-	1	128	c.104C>T	c.(103-105)cCg>cTg	p.P35L	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000330014.6_Splice_Site_p.P7L|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000531015.1_Splice_Site_p.P35L	NM_001142700.1	NP_001136172.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTCCTTACCGGAATAAATGC	0.338																																							0											0													37.0	36.0	36.0					11																	83984195		1566	3579	5145	SO:0001630	splice_region_variant	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000418306.2:c.105+1C>T	11.37:g.83984195G>A			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P35L	ENST00000418306.2	37	c.104	CCDS44691.1	11	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590756	0.46214	.	.	ENSG00000150672	ENST00000418306;ENST00000330014;ENST00000531015	T;T;T	0.41065	2.36;2.61;1.01	5.78	5.78	0.91487	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.80722	D	1	B;B;B	0.18741	0.014;0.03;0.001	B;B;B	0.14578	0.003;0.011;0.001	T	0.07046	-1.0793	7	.	.	.	.	16.747	0.85475	0.0:0.0:1.0:0.0	.	35;7;35	E9PIW2;B7Z264;Q15700-3	.;.;.	L	35;7;35	ENSP00000402275:P35L;ENSP00000381353:P7L;ENSP00000433848:P35L	.	P	-	2	0	DLG2	83661843	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.887000	0.39698	2.717000	0.92951	0.650000	0.86243	CCG	0	superfamily_PDZ,pirsf_M-assoc_guanylate_kinase		0.338	DLG2-013	KNOWN	basic|CCDS	protein_coding	DLG2	protein_coding	OTTHUMT00000393436.1	141	189	0	0.00	0	0	G	NM_001364	0	0	Missense_Mutation	83984195	-1	no_errors	ENST00000418306	ensembl	human	known	74_37	missense	74	154	28.16	29.03	29	63	SNP	1	A
SYTL2	54843	genome.wustl.edu	37	11	85437818	85437818	+	Intron	SNP	C	C	A	rs570803505		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:85437818C>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_De_novo_Start_OutOfFrame|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.E418D	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTGATCATCCTCATCTAAGA	0.428																																							0											0																																										SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1120G>T	11.37:g.85437818C>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E418D	ENST00000528231.1	37	c.1254	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274281	0.40194	.	.	ENSG00000137501	ENST00000359152	T	0.32272	1.46	5.76	-1.03	0.10102	.	0.656405	0.14114	N	0.340536	T	0.25306	0.0615	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27839	-1.0062	6	.	.	.	-2.7549	9.815	0.40846	0.0:0.2677:0.5837:0.1486	.	.	.	.	D	418	ENSP00000352065:E418D	.	E	-	3	2	SYTL2	85115466	0.000000	0.05858	0.923000	0.36655	0.947000	0.59692	-0.038000	0.12144	-0.139000	0.11414	0.655000	0.94253	GAG	0	NULL		0.428	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	protein_coding	OTTHUMT00000392192.1	61	252	0	0.00	0	0	C	NM_206927	0	0		85437818	-1	no_errors	ENST00000359152	ensembl	human	known	74_37	missense	36	242	36.84	20.39	21	62	SNP	0.3	A
KIAA1731	85459	genome.wustl.edu	37	11	93425161	93425161	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:93425161G>T	ENST00000325212.6	+	12	1660	c.1498G>T	c.(1498-1500)Gca>Tca	p.A500S	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000531622.1_Intron|KIAA1731_ENST00000411936.1_Missense_Mutation_p.A500S			Q9C0D2	K1731_HUMAN	KIAA1731	500						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCAAGAAGCAGCAGCCAGGAT	0.353																																							0											0													50.0	41.0	44.0					11																	93425161		692	1591	2283	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.1498G>T	11.37:g.93425161G>T	ENSP00000316681:p.Ala500Ser		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.A500S	ENST00000325212.6	37	c.1498	CCDS44708.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.563050|4.563050	0.86335|0.86335	.|.	.|.	ENSG00000166004|ENSG00000166004	ENST00000325212;ENST00000411936|ENST00000531877	T;T|.	0.25250|.	1.81;1.81|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.42821|.	D|.	0.000656|.	T|T	0.69124|0.69124	0.3076|0.3076	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.66536|0.66536	-0.5899|-0.5899	10|5	0.38643|.	T|.	0.18|.	-20.1022|-20.1022	17.0486|17.0486	0.86511|0.86511	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	500|.	Q9C0D2|.	K1731_HUMAN|.	S|I	500|47	ENSP00000316681:A500S;ENSP00000406505:A500S|.	ENSP00000316681:A500S|.	A|S	+|+	1|2	0|0	KIAA1731|KIAA1731	93064809|93064809	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.977000|0.977000	0.68977|0.68977	4.213000|4.213000	0.58520|0.58520	2.469000|2.469000	0.83416|0.83416	0.591000|0.591000	0.81541|0.81541	GCA|AGC	0	NULL		0.353	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	protein_coding	OTTHUMT00000394640.1	88	108	0	0.00	0	0	G	NM_033395	0	0		93425161	1	no_errors	ENST00000411936	ensembl	human	known	74_37	missense	52	118	26.76	19.73	19	29	SNP	1	T
GPR83	10888	genome.wustl.edu	37	11	94134311	94134311	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:94134311C>T	ENST00000243673.2	-	1	274	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	GPR83_ENST00000539203.2_Missense_Mutation_p.V35M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	35					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCATTGGGCACGGCCAGGGCC	0.662																																							0											0													48.0	52.0	51.0					11																	94134311		2201	4298	6499	SO:0001583	missense	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.103G>A	11.37:g.94134311C>T	ENSP00000243673:p.Val35Met		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V35M	ENST00000243673.2	37	c.103	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096828	0.37048	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.61274	0.12;0.21	4.4	-0.293	0.12835	.	1.434020	0.04684	N	0.412815	T	0.29458	0.0734	N	0.08118	0	0.09310	N	1	P	0.36027	0.533	B	0.22880	0.042	T	0.19353	-1.0308	10	0.35671	T	0.21	.	4.2926	0.10886	0.1547:0.4164:0.0:0.4288	.	35	Q9NYM4	GPR83_HUMAN	M	35	ENSP00000243673:V35M;ENSP00000441550:V35M	ENSP00000243673:V35M	V	-	1	0	GPR83	93773959	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-0.455000	0.06762	0.336000	0.23639	-0.369000	0.07265	GTG	0	NULL		0.662	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	protein_coding	OTTHUMT00000396232.1	16	108	0	0.00	0	0	C	NM_016540	0	0		94134311	-1	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	7	79	36.36	21.00	4	21	SNP	0	T
LOC643733	643733	genome.wustl.edu	37	11	104788843	104788843	+	IGR	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:104788843C>T								RP11-693N9.2 (9411 upstream) : CASP4 (24749 downstream)																							GACTCACCTGCCATAGATAAC	0.373																																							0											0																																										SO:0001628	intergenic_variant	0																															11.37:g.104788843C>T				RNA	SNP	0	NULL		37	NULL		11																																																																																			0	0	0	0.373					LOC643733			85	257	0	0.00	0	0	C		0	0		104788843	-1	no_errors	ENST00000527425	ensembl	human	known	74_37	rna	36	284	20	23.24	9	86	SNP	0.969	T
CWF19L2	143884	genome.wustl.edu	37	11	107328471	107328471	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:107328471C>A	ENST00000282251.5	-	1	99	c.72G>T	c.(70-72)caG>caT	p.Q24H	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q24H	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	24							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CATTCCGGGTCTGTTCTTTCC	0.493																																							0											0													113.0	118.0	116.0					11																	107328471		692	1591	2283	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.72G>T	11.37:g.107328471C>A	ENSP00000282251:p.Gln24His		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q24H	ENST00000282251.5	37	c.72	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	6.186	0.402462	0.11696	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23950	1.88;1.88	5.11	4.21	0.49690	.	.	.	.	.	T	0.32852	0.0843	M	0.77616	2.38	0.09310	N	1	P	0.49961	0.93	P	0.44732	0.459	T	0.33497	-0.9866	9	0.66056	D	0.02	.	7.1651	0.25685	0.0:0.7378:0.1719:0.0904	.	24	Q2TBE0	C19L2_HUMAN	H	24	ENSP00000282251:Q24H;ENSP00000387533:Q24H	ENSP00000282251:Q24H	Q	-	3	2	CWF19L2	106833681	0.223000	0.23663	0.057000	0.19452	0.104000	0.19210	0.210000	0.17455	1.389000	0.46526	0.591000	0.81541	CAG	0	NULL		0.493	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	protein_coding	OTTHUMT00000328825.2	72	192	0	0.00	0	0	C	NM_152434	0	0		107328471	-1	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	37	143	28.85	35.00	15	77	SNP	0.016	A
C11orf88	399949	genome.wustl.edu	37	11	111386791	111386791	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:111386791C>A	ENST00000375618.4	+	3	295	c.295C>A	c.(295-297)Cta>Ata	p.L99I	C11orf88_ENST00000529167.1_Missense_Mutation_p.L99I|C11orf88_ENST00000332814.6_Missense_Mutation_p.L99I|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	99										endometrium(1)|large_intestine(3)|lung(2)	6						TGCCGAAGCCCTAAAGATACA	0.294																																							0											0													75.0	76.0	75.0					11																	111386791		1800	4058	5858	SO:0001583	missense	0			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.295C>A	11.37:g.111386791C>A	ENSP00000364768:p.Leu99Ile		E9PAN0|Q6ZRL3	Missense_Mutation	SNP	NULL	p.L99I	ENST00000375618.4	37	c.295	CCDS41713.1	11	.	.	.	.	.	.	.	.	.	.	C	7.739	0.700899	0.15172	.	.	ENSG00000183644	ENST00000375618;ENST00000529167;ENST00000332814	.	.	.	4.46	-1.46	0.08800	.	1.337880	0.05164	N	0.498318	T	0.28200	0.0696	L	0.33485	1.01	0.09310	N	1	B;B	0.25719	0.132;0.037	B;B	0.19391	0.021;0.025	T	0.17471	-1.0368	9	0.17832	T	0.49	0.0184	6.6297	0.22849	0.6113:0.2958:0.0:0.0929	.	99;99	E9PAN0;Q6PI97	.;CK088_HUMAN	I	99	.	ENSP00000333845:L99I	L	+	1	2	C11orf88	110892001	0.013000	0.17824	0.004000	0.12327	0.016000	0.09150	0.121000	0.15667	-0.047000	0.13423	-0.169000	0.13324	CTA	0	NULL		0.294	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf88	protein_coding	OTTHUMT00000391181.1	337	230	0	0.00	0	0	C	NM_001100388	0	0		111386791	1	no_errors	ENST00000529167	ensembl	human	known	74_37	missense	201	166	25.28	32.52	68	80	SNP	0.001	A
IL18	3606	genome.wustl.edu	37	11	112019397	112019397	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:112019397C>T	ENST00000280357.7	-	5	508	c.289G>A	c.(289-291)Gct>Act	p.A97T	IL18_ENST00000528832.1_Missense_Mutation_p.A97T|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000524595.1_Missense_Mutation_p.A93T|SDHD_ENST00000532699.1_Intron	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	97					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATAGTTACAGCCATACCTCTA	0.333																																							0											0													34.0	32.0	33.0					11																	112019397		1769	4005	5774	SO:0001583	missense	0			U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"""Interleukins and interleukin receptors"""	5986	protein-coding gene	gene with protein product	"""interferon-gamma-inducing factor"""	600953	"""interleukin 18 (interferon-gamma-inducing factor)"""			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.289G>A	11.37:g.112019397C>T	ENSP00000280357:p.Ala97Thr		O75599|Q6FGY3|Q6WWJ7	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,pirsf_IL-18,prints_IL-18	p.A97T	ENST00000280357.7	37	c.289	CCDS44731.1	11	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503065	0.64298	.	.	ENSG00000150782	ENST00000280357;ENST00000524595;ENST00000528832	T;T;T	0.18960	2.18;2.18;2.18	4.7	1.65	0.23941	.	0.360213	0.23740	N	0.045024	T	0.29288	0.0729	M	0.74881	2.28	0.18873	N	0.999988	B;P;P	0.39443	0.246;0.674;0.674	B;P;P	0.46850	0.206;0.529;0.529	T	0.10753	-1.0616	10	0.52906	T	0.07	-5.4912	6.4618	0.21960	0.0:0.5455:0.356:0.0985	.	93;97;97	Q6WWJ7;Q14116;Q96KJ8	.;IL18_HUMAN;.	T	97;93;97	ENSP00000280357:A97T;ENSP00000434561:A93T;ENSP00000434161:A97T	ENSP00000280357:A97T	A	-	1	0	IL18	111524607	0.085000	0.21516	0.790000	0.31976	0.360000	0.29518	0.603000	0.24149	0.160000	0.19432	0.655000	0.94253	GCT	0	pfam_IL-1,superfamily_Cytokine_IL1-like,pirsf_IL-18		0.333	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL18	protein_coding	OTTHUMT00000392409.1	252	265	0	0.38	0	1	C	NM_001562	0	0		112019397	-1	no_errors	ENST00000280357	ensembl	human	known	74_37	missense	142	211	26.42	24.64	51	69	SNP	0.241	T
AMICA1	120425	genome.wustl.edu	37	11	118076603	118076603	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:118076603G>A	ENST00000356289.5	-	5	701	c.528C>T	c.(526-528)cgC>cgT	p.R176R	AMICA1_ENST00000533261.1_Intron|AMICA1_ENST00000292067.7_Silent_p.R166R|AMICA1_ENST00000526620.1_Silent_p.R137R	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	176	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTACCTTTGCGCGCCGTCCTG	0.473																																							0											0													298.0	223.0	249.0					11																	118076603		2200	4296	6496	SO:0001819	synonymous_variant	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.528C>T	11.37:g.118076603G>A			B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R176	ENST00000356289.5	37	c.528	CCDS41723.1	11																																																																																			0	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.473	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	protein_coding	OTTHUMT00000392105.2	55	225	0	0.00	0	0	G	NM_153206	0	0		118076603	-1	no_errors	ENST00000356289	ensembl	human	known	74_37	silent	37	152	27.45	30.14	14	66	SNP	0	A
HYOU1	10525	genome.wustl.edu	37	11	118917366	118917366	+	Missense_Mutation	SNP	C	C	A	rs552980302	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:118917366C>A	ENST00000404233.3	-	23	2868	c.2744G>T	c.(2743-2745)cGg>cTg	p.R915L	HYOU1_ENST00000525859.1_Missense_Mutation_p.R853L|HYOU1_ENST00000529972.1_Missense_Mutation_p.R853L|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	915					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGGCCGGGGCCGGGGCTTGGT	0.572																																							0											0													106.0	106.0	106.0					11																	118917366		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2744G>T	11.37:g.118917366C>A	ENSP00000384144:p.Arg915Leu		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R915L	ENST00000404233.3	37	c.2744	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885899	0.51908	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01397	4.96;4.94;4.94	6.04	6.04	0.98038	.	0.172443	0.49305	D	0.000147	T	0.01592	0.0051	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.50066	0.708;0.931;0.708;0.708	B;B;B;B	0.38458	0.235;0.274;0.235;0.235	T	0.61584	-0.7033	10	0.52906	T	0.07	-23.5372	7.9397	0.29950	0.0:0.8153:0.0:0.1847	.	906;897;915;915	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	L	915;906;853;764;853;896	ENSP00000384144:R915L;ENSP00000437313:R853L;ENSP00000433397:R853L	ENSP00000278752:R906L	R	-	2	0	HYOU1	118422576	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	3.580000	0.53907	2.873000	0.98535	0.561000	0.74099	CGG	0	NULL		0.572	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	protein_coding	OTTHUMT00000389353.1	40	208	0	0.00	0	0	C	NM_006389	0	0		118917366	-1	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	29	179	29.27	27.82	12	69	SNP	1	A
POU2F3	25833	genome.wustl.edu	37	11	120176431	120176431	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:120176431A>G	ENST00000543440.2	+	8	856	c.706A>G	c.(706-708)Aac>Gac	p.N236D	POU2F3_ENST00000260264.4_Missense_Mutation_p.N238D	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	236	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TGAGGCCCTCAACCTGAGCTT	0.587																																							0											0													148.0	125.0	133.0					11																	120176431		2203	4299	6502	SO:0001583	missense	0			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.706A>G	11.37:g.120176431A>G	ENSP00000441687:p.Asn236Asp		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.N238D	ENST00000543440.2	37	c.712	CCDS8431.1	11	.	.	.	.	.	.	.	.	.	.	A	33	5.243910	0.95272	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.71	5.71	0.89125	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	L	0.39566	1.225	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.79784	0.993;0.993	D	0.88694	0.3211	10	0.66056	D	0.02	.	15.9844	0.80138	1.0:0.0:0.0:0.0	.	190;236	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	D	238;236;190;21	ENSP00000441687:N238D;ENSP00000260264:N236D;ENSP00000435738:N190D;ENSP00000436236:N21D	ENSP00000260264:N236D	N	+	1	0	POU2F3	119681641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.179000	0.69175	0.459000	0.35465	AAC	0	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU		0.587	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	protein_coding	OTTHUMT00000388039.2	39	101	0	0.00	0	0	A		0	0		120176431	1	no_errors	ENST00000260264	ensembl	human	known	74_37	missense	21	88	25	22.81	7	26	SNP	1	G
C11orf63	79864	genome.wustl.edu	37	11	122775018	122775018	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:122775018C>T	ENST00000531316.1	+	2	822	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	C11orf63_ENST00000307257.6_Missense_Mutation_p.R244C|C11orf63_ENST00000227349.2_Missense_Mutation_p.R244C			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	244					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCCGGGATCACGTGGCCCTCG	0.493																																							0											0													127.0	117.0	120.0					11																	122775018		2202	4299	6501	SO:0001583	missense	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.730C>T	11.37:g.122775018C>T	ENSP00000431669:p.Arg244Cys		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.R244C	ENST00000531316.1	37	c.730	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715896	0.68844	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.52526	0.66;0.66	5.74	3.72	0.42706	.	0.323592	0.24445	N	0.038477	T	0.62478	0.2431	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.917;0.963	T	0.54938	-0.8218	10	0.72032	D	0.01	-2.9392	11.8111	0.52183	0.4623:0.5377:0.0:0.0	.	244;244	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	C	244	ENSP00000227349:R244C;ENSP00000431669:R244C	ENSP00000227349:R244C	R	+	1	0	C11orf63	122280228	0.000000	0.05858	0.140000	0.22221	0.977000	0.68977	0.441000	0.21611	1.371000	0.46172	0.650000	0.86243	CGT	0	NULL		0.493	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	protein_coding	OTTHUMT00000387511.1	32	231	0	0.00	0	0	C	NM_024806	0	0		122775018	1	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	20	222	31.03	27.92	9	86	SNP	0.044	T
OR10G8	219869	genome.wustl.edu	37	11	123900750	123900750	+	Missense_Mutation	SNP	A	A	G	rs200971859		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:123900750A>G	ENST00000431524.1	+	1	454	c.421A>G	c.(421-423)Act>Gct	p.T141A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCGCTCGTGTACTCTTCTGGC	0.562													A|||	1	0.000199681	0.0	0.0	5008	,	,		20490	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													162.0	148.0	153.0					11																	123900750		2201	4299	6500	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.421A>G	11.37:g.123900750A>G	ENSP00000389072:p.Thr141Ala		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T141A	ENST00000431524.1	37	c.421	CCDS31704.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.001	-3.146994	0.00029	.	.	ENSG00000234560	ENST00000431524	T	0.35973	1.28	3.04	-0.0545	0.13813	GPCR, rhodopsin-like superfamily (1);	0.856239	0.09892	N	0.742287	T	0.09905	0.0243	N	0.01751	-0.74	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31833	-0.9929	10	0.02654	T	1	.	2.9405	0.05829	0.3657:0.0:0.4386:0.1957	.	141	Q8NGN5	O10G8_HUMAN	A	141	ENSP00000389072:T141A	ENSP00000389072:T141A	T	+	1	0	OR10G8	123405960	0.000000	0.05858	0.209000	0.23619	0.006000	0.05464	-0.440000	0.06888	-0.129000	0.11620	-0.147000	0.13772	ACT	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	protein_coding	OTTHUMT00000387270.1	53	23	0	0.00	0	0	A	NM_001004464	rs200971859	A->G		123900750	1	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	27	24	22.86	17.24	8	5	SNP	0	G
SIAE	54414	genome.wustl.edu	37	11	124509731	124509731	+	Silent	SNP	G	G	A	rs371229601		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:124509731G>A	ENST00000263593.3	-	8	1171	c.999C>T	c.(997-999)gaC>gaT	p.D333D	SIAE_ENST00000545756.1_Silent_p.D298D			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	333					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GAAATCCATCGTCTGAGCTCT	0.438																																							0											0								G	,	0,4402		0,0,2201	164.0	147.0	152.0		894,999	-5.9	0.0	11		152	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SIAE	NM_001199922.1,NM_170601.4	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	298/489,333/524	124509731	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.999C>T	11.37:g.124509731G>A			B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	pfam_DUF303_acetylest	p.D333	ENST00000263593.3	37	c.999	CCDS8449.1	11																																																																																			0	NULL		0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	protein_coding	OTTHUMT00000387070.1	60	184	0	0.54	0	1	G	NM_170601	rs371229601	G->A		124509731	-1	no_errors	ENST00000263593	ensembl	human	known	74_37	silent	26	153	49.02	28.17	25	60	SNP	0.004	A
CHEK1	1111	genome.wustl.edu	37	11	125497651	125497651	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:125497651G>T	ENST00000534070.1	+	3	470	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CHEK1_ENST00000544373.1_Missense_Mutation_p.G72V|CHEK1_ENST00000428830.2_Missense_Mutation_p.G72V|CHEK1_ENST00000524737.1_Missense_Mutation_p.G72V|CHEK1_ENST00000438015.1_Missense_Mutation_p.G72V|CHEK1_ENST00000278916.3_Missense_Mutation_p.G72V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000532449.1_Intron	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	72	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAATTCTATGGTCACAGGAGA	0.323								Other conserved DNA damage response genes																															0											0													89.0	94.0	93.0					11																	125497651		2201	4299	6500	SO:0001583	missense	0			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.215G>T	11.37:g.125497651G>T	ENSP00000435371:p.Gly72Val		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G72V	ENST00000534070.1	37	c.215	CCDS8459.1	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388690	0.82902	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.5	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.66582	-0.5887	10	0.56958	D	0.05	.	16.3569	0.83237	0.0:0.1324:0.8676:0.0	.	72;72;72	F5H7S4;B5BTY6;O14757	.;.;CHK1_HUMAN	V	72	ENSP00000388648:G72V;ENSP00000434141:G72V;ENSP00000412504:G72V;ENSP00000442317:G72V;ENSP00000431525:G72V;ENSP00000431815:G72V;ENSP00000432470:G72V;ENSP00000435371:G72V;ENSP00000432890:G72V;ENSP00000278916:G72V	ENSP00000278916:G72V	G	+	2	0	CHEK1	125002861	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.787000	0.91830	1.453000	0.47775	-0.182000	0.12963	GGT	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.323	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	protein_coding	OTTHUMT00000386714.1	90	249	0	0.00	0	0	G	NM_001274	0	0		125497651	1	no_errors	ENST00000438015	ensembl	human	known	74_37	missense	40	198	37.5	25.56	24	68	SNP	1	T
FLI1	2313	genome.wustl.edu	37	11	128628012	128628012	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:128628012G>T	ENST00000527786.2	+	2	510	c.21G>T	c.(19-21)gaG>gaT	p.E7D	FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000534087.2_5'UTR|FLI1_ENST00000525560.1_5'UTR	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	7					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCTGCAGGAGGCTCTGTCGG	0.622			T	EWSR1	Ewing sarcoma																																		0		Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													30.0	34.0	33.0					11																	128628012		2169	4274	6443	SO:0001583	missense	0			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.21G>T	11.37:g.128628012G>T	ENSP00000433488:p.Glu7Asp		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.E7D	ENST00000527786.2	37	c.21	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860902	0.91433	.	.	ENSG00000151702	ENST00000429175	T	0.29397	1.57	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51148	-0.8742	10	0.87932	D	0	.	12.526	0.56087	0.0763:0.0:0.9237:0.0	.	7	Q01543	FLI1_HUMAN	D	7	ENSP00000399985:E7D	ENSP00000399985:E7D	E	+	3	2	FLI1	128133222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.657000	0.83745	2.520000	0.84964	0.561000	0.74099	GAG	0	NULL		0.622	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	protein_coding	OTTHUMT00000386226.2	14	115	0	0.00	0	0	G	NM_002017	0	0		128628012	1	no_errors	ENST00000527786	ensembl	human	known	74_37	missense	13	94	23.53	16.07	4	18	SNP	1	T
GLB1L2	89944	genome.wustl.edu	37	11	134237185	134237185	+	Missense_Mutation	SNP	C	C	T	rs147686340		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:134237185C>T	ENST00000535456.2	+	9	1027	c.839C>T	c.(838-840)aCg>aTg	p.T280M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.T280M|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.T280M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	280					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GAGTACTGGACGGGGTGGTTT	0.502																																							0											0								C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	171.0	144.0	154.0		839	5.5	1.0	11	dbSNP_134	154	0,8594		0,0,4297	no	missense	GLB1L2	NM_138342.3	81	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	280/637	134237185	1,12995	2201	4297	6498	SO:0001583	missense	0				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.839C>T	11.37:g.134237185C>T	ENSP00000444628:p.Thr280Met		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.T280M	ENST00000535456.2	37	c.839	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947863	0.92593	2.27E-4	0.0	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.98164	-4.76;-4.76;-4.76	5.51	5.51	0.81932	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.113852	0.64402	D	0.000009	D	0.99211	0.9726	M	0.93978	3.48	0.58432	D	0.999996	D	0.76494	0.999	D	0.69479	0.964	D	0.99257	1.0889	10	0.87932	D	0	-12.5211	18.1928	0.89812	0.0:1.0:0.0:0.0	.	280	Q8IW92	GLBL2_HUMAN	M	280	ENSP00000344659:T280M;ENSP00000444628:T280M;ENSP00000374531:T280M	ENSP00000344659:T280M	T	+	2	0	GLB1L2	133742395	1.000000	0.71417	0.960000	0.40013	0.997000	0.91878	6.799000	0.75160	2.589000	0.87451	0.655000	0.94253	ACG	0	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35		0.502	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	protein_coding	OTTHUMT00000393629.2	74	210	1.33	0.00	1	0	C	NM_138342	rs147686340	C->T		134237185	1	no_errors	ENST00000339772	ensembl	human	known	74_37	missense	56	164	28.21	30.96	22	74	SNP	0.999	T
IQSEC3	440073	genome.wustl.edu	37	12	266277	266277	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:266277A>G	ENST00000538872.1	+	6	2358	c.2240A>G	c.(2239-2241)gAg>gGg	p.E747G	IQSEC3_ENST00000326261.4_Missense_Mutation_p.E747G|IQSEC3_ENST00000382841.2_Missense_Mutation_p.E444G			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	747	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GTGCAGGGGGAGGCTCAGAAG	0.652																																							0											0													39.0	35.0	37.0					12																	266277		2199	4300	6499	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2240A>G	12.37:g.266277A>G	ENSP00000437554:p.Glu747Gly		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.E747G	ENST00000538872.1	37	c.2240	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990332	0.54041	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.73575	-0.76;-0.76;-0.76	3.7	3.7	0.42460	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.050671	0.85682	D	0.000000	D	0.90553	0.7039	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93198	0.6589	10	0.87932	D	0	.	12.6737	0.56882	1.0:0.0:0.0:0.0	.	747;444	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	G	747;747;444	ENSP00000437554:E747G;ENSP00000315662:E747G;ENSP00000372292:E444G	ENSP00000315662:E747G	E	+	2	0	IQSEC3	136538	1.000000	0.71417	0.940000	0.37924	0.058000	0.15608	9.157000	0.94714	1.472000	0.48140	0.260000	0.18958	GAG	0	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.652	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	protein_coding	OTTHUMT00000397382.3	23	94	4	0.00	1	0	A	XM_495902	0	0		266277	1	no_errors	ENST00000326261	ensembl	human	known	74_37	missense	10	60	50	23.08	10	18	SNP	1	G
VWF	7450	genome.wustl.edu	37	12	6132810	6132810	+	Silent	SNP	C	C	T	rs373172467		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6132810C>T	ENST00000261405.5	-	25	3620	c.3366G>A	c.(3364-3366)acG>acA	p.T1122T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1122					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAATGTGGCCGTCCTCCAGG	0.577																																							0											0								C		1,4405		0,1,2202	74.0	66.0	69.0		3366	-10.2	0.0	12		69	0,8600		0,0,4300	no	coding-synonymous	VWF	NM_000552.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1122/2814	6132810	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3366G>A	12.37:g.6132810C>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.T1122	ENST00000261405.5	37	c.3366	CCDS8539.1	12																																																																																			0	pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	114	90	0	0.00	0	0	C	NM_000552	rs373172467	C->T		6132810	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	69	56	28.12	28.40	27	23	SNP	0	T
SCNN1A	6337	genome.wustl.edu	37	12	6471270	6471270	+	Silent	SNP	C	C	T	rs372634287		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6471270C>T	ENST00000228916.2	-	4	920	c.822G>A	c.(820-822)acG>acA	p.T274T	SCNN1A_ENST00000543768.1_Silent_p.T297T|SCNN1A_ENST00000360168.3_Silent_p.T333T|SCNN1A_ENST00000358945.3_Silent_p.T274T|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000396966.2_Silent_p.T274T	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	274					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGTTGCCCAGCGTGTCCTCCT	0.617																																							0											0								C	,,	1,4405	2.1+/-5.4	0,1,2202	111.0	95.0	100.0		822,891,999	-5.7	0.0	12		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SCNN1A	NM_001038.5,NM_001159575.1,NM_001159576.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	274/670,297/693,333/729	6471270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.822G>A	12.37:g.6471270C>T			A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T274	ENST00000228916.2	37	c.822	CCDS8543.1	12																																																																																			0	pfam_Na+channel_ASC,tigrfam_EnaC		0.617	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	protein_coding	OTTHUMT00000399055.1	43	89	0	0.00	0	0	C		rs372634287	C->T		6471270	-1	no_errors	ENST00000358945	ensembl	human	known	74_37	silent	16	66	46.67	32.65	14	32	SNP	0	T
CLSTN3	9746	genome.wustl.edu	37	12	7309220	7309220	+	Intron	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:7309220T>A	ENST00000266546.6	+	17	2977				CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Intron	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTGGCAACCTTTGTGCAGCTG	0.612																																							0											0																																										SO:0001627	intron_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2528-865T>A	12.37:g.7309220T>A			D3DUT6|O94831|Q2T9J5|Q5UE57	RNA	SNP	0	NULL	ENST00000266546.6	37	NULL	CCDS8575.1	12																																																																																			0	0		0.612	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	protein_coding	OTTHUMT00000398560.2	29	80	0	0.00	0	0	T	NM_014718	0	0		7309220	1	no_errors	ENST00000331148	ensembl	human	known	74_37	rna	15	83	31.82	17.00	7	17	SNP	0.006	A
A2ML1	144568	genome.wustl.edu	37	12	9009835	9009835	+	Missense_Mutation	SNP	T	T	C	rs202179061		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:9009835T>C	ENST00000299698.7	+	24	3104	c.2924T>C	c.(2923-2925)aTg>aCg	p.M975T	A2ML1_ENST00000539547.1_Missense_Mutation_p.M484T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAGCAGAACATGGTCTTGTTT	0.547													T|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0								T	THR/MET	0,4056		0,0,2028	164.0	169.0	168.0		2924	2.6	1.0	12		168	8,8388		0,8,4190	yes	missense	A2ML1	NM_144670.3	81	0,8,6218	CC,CT,TT		0.0953,0.0,0.0642	probably-damaging	975/1455	9009835	8,12444	2028	4198	6226	SO:0001583	missense	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2924T>C	12.37:g.9009835T>C	ENSP00000299698:p.Met975Thr			Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.M975T	ENST00000299698.7	37	c.2924	CCDS8596.2	12	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	15.11	2.734737	0.48939	0.0	9.53E-4	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.69040	-0.37;-0.37;-0.37	3.73	2.56	0.30785	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);Alpha-2-macroglobulin, conserved site (1);	0.083513	0.48286	N	0.000183	D	0.82852	0.5127	M	0.92970	3.365	0.41050	D	0.985294	D	0.89917	1.0	D	0.91635	0.999	T	0.83005	-0.0175	10	0.87932	D	0	.	8.0817	0.30748	0.0:0.1014:0.0:0.8986	.	975	A8K2U0	A2ML1_HUMAN	T	975;975;525;484	ENSP00000299698:M975T;ENSP00000443174:M525T;ENSP00000438292:M484T	ENSP00000299698:M975T	M	+	2	0	A2ML1	8901102	1.000000	0.71417	0.968000	0.41197	0.684000	0.39900	4.864000	0.62990	0.602000	0.29896	0.379000	0.24179	ATG	0	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase		0.547	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	protein_coding	OTTHUMT00000250304.3	50	103	0	0.00	0	0	T	NM_144670	rs202179061	T->C		9009835	1	no_errors	ENST00000299698	ensembl	human	known	74_37	missense	33	78	19.51	30.36	8	34	SNP	1	C
GPRC5A	9052	genome.wustl.edu	37	12	13062048	13062048	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:13062048G>A	ENST00000014914.5	+	2	1755	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	289					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	ACCTCAACTCGTGAAGAAGAG	0.473																																							0											0													69.0	63.0	65.0					12																	13062048		2203	4300	6503	SO:0001583	missense	0			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.865G>A	12.37:g.13062048G>A	ENSP00000014914:p.Val289Met		B3KV45|O95357	Missense_Mutation	SNP	pfam_GPCR_3_C	p.V289M	ENST00000014914.5	37	c.865	CCDS8657.1	12	.	.	.	.	.	.	.	.	.	.	g	0.162	-1.080360	0.01888	.	.	ENSG00000013588	ENST00000014914;ENST00000540125	T	0.17213	2.29	5.86	4.69	0.59074	.	0.179946	0.51477	N	0.000090	T	0.04679	0.0127	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36212	-0.9757	10	0.22706	T	0.39	-0.7112	4.2806	0.10831	0.6807:0.1293:0.0663:0.1237	.	289;289	Q8NFJ5;A8K556	RAI3_HUMAN;.	M	289;16	ENSP00000014914:V289M	ENSP00000014914:V289M	V	+	1	0	GPRC5A	12953315	0.949000	0.32298	0.915000	0.36163	0.177000	0.22998	1.699000	0.37804	0.452000	0.26830	-0.269000	0.10298	GTG	0	NULL		0.473	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	protein_coding	OTTHUMT00000400682.1	59	265	0	0.00	0	0	G		0	0		13062048	1	no_errors	ENST00000014914	ensembl	human	known	74_37	missense	55	283	8.33	5.98	5	18	SNP	0.989	A
ARID2	196528	genome.wustl.edu	37	12	46243410	46243410	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:46243410G>A	ENST00000334344.6	+	14	1935	c.1763G>A	c.(1762-1764)aGc>aAc	p.S588N	ARID2_ENST00000422737.1_Missense_Mutation_p.S439N|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.S198N|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	588					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GATTCCAGTAGCAATGGGCAG	0.403			"""N, S, F"""		hepatocellular carcinoma																																		0		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													245.0	218.0	227.0					12																	46243410		2203	4300	6503	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1763G>A	12.37:g.46243410G>A	ENSP00000335044:p.Ser588Asn		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S588N	ENST00000334344.6	37	c.1763	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	2.819	-0.245310	0.05906	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	D;D;D	0.82893	-1.66;-1.66;-1.66	5.76	2.06	0.26882	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.454766	0.27227	N	0.020327	T	0.52725	0.1752	N	0.01576	-0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50065	-0.8871	10	0.02654	T	1	-0.7291	8.9863	0.35997	0.6832:0.0:0.3168:0.0	.	588;588	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	N	588;439;198	ENSP00000335044:S588N;ENSP00000415650:S439N;ENSP00000397307:S198N	ENSP00000335044:S588N	S	+	2	0	ARID2	44529677	0.959000	0.32827	0.753000	0.31225	0.856000	0.48823	0.471000	0.22100	-0.110000	0.12022	-0.254000	0.11334	AGC	0	NULL		0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	121	210	0	0.00	0	0	G	XM_350875	0	0		46243410	1	no_errors	ENST00000334344	ensembl	human	known	74_37	missense	63	169	25	24.00	21	54	SNP	0.996	A
PFKM	5213	genome.wustl.edu	37	12	48528050	48528050	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:48528050G>A	ENST00000312352.7	+	7	668	c.629G>A	c.(628-630)cGc>cAc	p.R210H	PFKM_ENST00000547587.1_Missense_Mutation_p.R210H|PFKM_ENST00000551804.1_Missense_Mutation_p.R210H|PFKM_ENST00000340802.6_Missense_Mutation_p.R281H|PFKM_ENST00000359794.5_Missense_Mutation_p.R210H|PFKM_ENST00000395233.2_Missense_Mutation_p.R210H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	210	N-terminal catalytic PFK domain 1.|Substrate binding. {ECO:0000255|HAMAP- Rule:MF_03184}.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTAATGGGCCGCCACTGTGGG	0.507																																							0											0													176.0	157.0	164.0					12																	48528050		2203	4300	6503	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.629G>A	12.37:g.48528050G>A	ENSP00000309438:p.Arg210His		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R210H	ENST00000312352.7	37	c.629	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.267825	0.95399	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	4.54	4.54	0.55810	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.94803	0.7972	10	0.87932	D	0	-14.0999	17.2641	0.87081	0.0:0.0:1.0:0.0	.	210;210;281	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	281;210;210;210;210;210	ENSP00000345771:R281H;ENSP00000352842:R210H;ENSP00000378656:R210H;ENSP00000448177:R210H;ENSP00000449426:R210H;ENSP00000309438:R210H	ENSP00000309438:R210H	R	+	2	0	PFKM	46814317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.797000	0.96272	0.655000	0.94253	CGC	0	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk		0.507	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	protein_coding	OTTHUMT00000406490.1	63	225	1.56	0.00	1	0	G	NM_000289	0	0		48528050	1	no_errors	ENST00000312352	ensembl	human	known	74_37	missense	27	183	20.59	31.97	7	86	SNP	1	A
RARG	5916	genome.wustl.edu	37	12	53608001	53608001	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:53608001G>T	ENST00000425354.2	-	7	1142	c.655C>A	c.(655-657)Cgc>Agc	p.R219S	RARG_ENST00000338561.5_Missense_Mutation_p.R208S|RARG_ENST00000327550.3_Missense_Mutation_p.R147S|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.R197S|RARG_ENST00000394426.1_Missense_Mutation_p.R219S	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	219	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R219C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGCTGCACGCGGTGGTCTGCA	0.567																																							0											1	Substitution - Missense(1)	large_intestine(1)											77.0	67.0	70.0					12																	53608001		2203	4300	6503	SO:0001583	missense	0			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.655C>A	12.37:g.53608001G>T	ENSP00000388510:p.Arg219Ser		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R219S	ENST00000425354.2	37	c.655	CCDS8850.1	12	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564055	0.45694	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.37	5.37	0.77165	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.83603	2.65	0.80722	D	1	B;D;D;B	0.76494	0.397;0.997;0.999;0.328	P;D;D;B	0.77557	0.635;0.96;0.99;0.091	T	0.51965	-0.8638	10	0.24483	T	0.36	.	11.8888	0.52618	0.0:0.0:0.7219:0.2781	.	256;197;219;208	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	S	219;219;147;208;197;256	ENSP00000388510:R219S;ENSP00000377947:R219S;ENSP00000332695:R147S;ENSP00000343698:R208S;ENSP00000444335:R197S	ENSP00000332695:R147S	R	-	1	0	RARG	51894268	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.445000	0.44899	2.688000	0.91661	0.563000	0.77884	CGC	0	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt		0.567	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	protein_coding	OTTHUMT00000109404.2	16	97	0	0.00	0	0	G	NM_000966	0	0		53608001	-1	no_errors	ENST00000394426	ensembl	human	known	74_37	missense	10	56	23.08	25.33	3	19	SNP	1	T
AMHR2	269	genome.wustl.edu	37	12	53819610	53819610	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:53819610G>A	ENST00000257863.4	+	6	839	c.759G>A	c.(757-759)caG>caA	p.Q253Q	AMHR2_ENST00000379791.3_Silent_p.Q253Q|AMHR2_ENST00000550311.1_Silent_p.Q253Q	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CAGGCCTACAGCACGACCACA	0.592																																							0											0													74.0	64.0	67.0					12																	53819610		2203	4300	6503	SO:0001819	synonymous_variant	0			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.759G>A	12.37:g.53819610G>A			A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q253	ENST00000257863.4	37	c.759	CCDS8858.1	12																																																																																			0	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.592	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	protein_coding	OTTHUMT00000407048.1	37	112	0	0.00	0	0	G	NM_020547	0	0		53819610	1	no_errors	ENST00000257863	ensembl	human	known	74_37	silent	17	113	39.29	29.38	11	47	SNP	0.475	A
PCBP2	5094	genome.wustl.edu	37	12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:53865444G>A	ENST00000439930.3	+	13	936	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_ENST00000552296.2_Missense_Mutation_p.R301H|PCBP2_ENST00000548933.1_Missense_Mutation_p.R275H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258H|PCBP2_ENST00000603815.1_Missense_Mutation_p.R305H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275H|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306H|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262H			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498																																							0											1	Substitution - Missense(1)	central_nervous_system(1)											54.0	44.0	47.0					12																	53865444		2203	4300	6503	SO:0001583	missense	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.914G>A	12.37:g.53865444G>A	ENSP00000408949:p.Arg305His		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.R305H	ENST00000439930.3	37	c.914	CCDS44901.1	12	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536741	0.65085	.	.	ENSG00000197111	ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000379777;ENST00000553064	T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.12	4.24	0.50183	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.68593	2.085	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.32010	0.001;0.055;0.009;0.027;0.009;0.351;0.055;0.02;0.02;0.033	B;B;B;B;B;B;B;B;B;B	0.29176	0.004;0.063;0.047;0.019;0.064;0.099;0.038;0.034;0.064;0.047	T	0.37798	-0.9690	10	0.87932	D	0	.	12.6068	0.56527	0.0816:0.0:0.9184:0.0	.	262;263;305;248;275;258;301;271;306;302	B4DXP5;F8VRG9;Q15366;F8VWQ4;Q32Q82;G3V0E8;F8VYL7;Q68Y55;Q6IPF4;A8K7X6	.;.;PCBP2_HUMAN;.;.;.;.;.;.;.	H	271;275;258;305;261;306;248;302;301;263;262;258;275;222;135	ENSP00000352228:R271H;ENSP00000394116:R275H;ENSP00000390304:R258H;ENSP00000408949:R305H;ENSP00000447670:R261H;ENSP00000352438:R306H;ENSP00000448762:R302H;ENSP00000448927:R301H;ENSP00000449070:R262H;ENSP00000388008:R258H;ENSP00000449062:R275H	ENSP00000352228:R271H	R	+	2	0	PCBP2	52151711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.564000	0.98151	1.396000	0.46663	0.650000	0.86243	CGT	0	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.498	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	protein_coding	OTTHUMT00000407545.2	45	168	0	0.00	0	0	G	NM_005016	0	0		53865444	1	no_errors	ENST00000603815	ensembl	human	known	74_37	missense	36	110	7.69	25.17	3	37	SNP	1	A
OR6C1	390321	genome.wustl.edu	37	12	55715136	55715136	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:55715136C>T	ENST00000379668.2	+	1	791	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCTCTTATGGCAGCTGCATTT	0.423																																							0											0													105.0	99.0	101.0					12																	55715136		2203	4300	6503	SO:0001819	synonymous_variant	0			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.753C>T	12.37:g.55715136C>T			B2RNM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G251	ENST00000379668.2	37	c.753	CCDS31818.1	12																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	protein_coding	OTTHUMT00000398152.1	75	216	0	0.92	0	2	C	NM_001005182	0	0		55715136	1	no_errors	ENST00000379668	ensembl	human	known	74_37	silent	41	200	28.07	30.07	16	86	SNP	0.027	T
OR6C76	390326	genome.wustl.edu	37	12	55820800	55820800	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:55820800A>G	ENST00000328314.3	+	1	763	c.763A>G	c.(763-765)Atg>Gtg	p.M255V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCATCTTCATGTATGTGAA	0.403																																							0											0													110.0	98.0	102.0					12																	55820800		2203	4300	6503	SO:0001583	missense	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.763A>G	12.37:g.55820800A>G	ENSP00000328402:p.Met255Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M255V	ENST00000328314.3	37	c.763	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	a	9.642	1.139297	0.21205	.	.	ENSG00000185821	ENST00000328314	T	0.00137	8.68	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.222832	0.31020	U	0.008405	T	0.00144	0.0004	L	0.52266	1.64	0.24556	N	0.993997	B	0.20164	0.042	B	0.26094	0.066	T	0.37314	-0.9711	10	0.54805	T	0.06	.	3.4897	0.07633	0.5717:0.0:0.0999:0.3284	.	255	A6NM76	O6C76_HUMAN	V	255	ENSP00000328402:M255V	ENSP00000328402:M255V	M	+	1	0	OR6C76	54107067	0.000000	0.05858	0.992000	0.48379	0.942000	0.58702	-0.184000	0.09698	1.815000	0.52974	0.434000	0.28630	ATG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	protein_coding	OTTHUMT00000406675.1	61	151	0	0.00	0	0	A	NM_001005183	0	0		55820800	1	no_errors	ENST00000328314	ensembl	human	known	74_37	missense	35	164	18.6	27.75	8	63	SNP	0.997	G
INHBC	3626	genome.wustl.edu	37	12	57828744	57828744	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:57828744G>A	ENST00000309668.2	+	1	202	c.75G>A	c.(73-75)caG>caA	p.Q25Q	RP11-756H6.1_ENST00000547552.1_lincRNA	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	25					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CTGGCGGTCAGTGTCCAGCAT	0.597																																							0											0													40.0	39.0	40.0					12																	57828744		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.75G>A	12.37:g.57828744G>A			A1L3Y2	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC	p.Q25	ENST00000309668.2	37	c.75	CCDS8938.1	12																																																																																			0	prints_Inhibin_betaC		0.597	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBC	protein_coding	OTTHUMT00000406770.1	25	75	0	0.00	0	0	G	NM_005538	0	0		57828744	1	no_errors	ENST00000309668	ensembl	human	known	74_37	silent	16	87	30.43	19.44	7	21	SNP	0.902	A
GRIP1	23426	genome.wustl.edu	37	12	66786159	66786159	+	Missense_Mutation	SNP	G	G	A	rs200363939		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:66786159G>A	ENST00000398016.3	-	18	2305	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	GRIP1_ENST00000359742.4_Missense_Mutation_p.T798M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T798M|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTGGGCACCGTGGAGGGGTA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17886	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0								G	MET/THR,MET/THR	0,4088		0,0,2044	133.0	136.0	135.0		2237,2237	4.8	0.2	12		135	4,8366		0,4,4181	yes	missense,missense	GRIP1	NM_001178074.1,NM_021150.3	81,81	0,4,6225	AA,AG,GG		0.0478,0.0,0.0321	probably-damaging,probably-damaging	746/1062,746/1077	66786159	4,12454	2044	4185	6229	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2237C>T	12.37:g.66786159G>A	ENSP00000381098:p.Thr746Met		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T798M	ENST00000398016.3	37	c.2393	CCDS41807.1	12	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	16.26|16.26	3.071815|3.071815	0.55646|0.55646	0.0|0.0	4.78E-4|4.78E-4	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.80393	.|-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.408618	.|0.30639	.|N	.|0.009181	D|D	0.88503|0.88503	0.6454|0.6454	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D;D	.|0.89917	.|1.0;0.981;0.989;0.999	.|D;P;P;D	.|0.66847	.|0.947;0.66;0.888;0.941	D|D	0.87882|0.87882	0.2678|0.2678	5|9	.|.	.|.	.|.	-1.1645|-1.1645	18.4992|18.4992	0.90875|0.90875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|746;798;746;798	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	W|M	613|746;798;798;746;690;638	.|ENSP00000381098:T746M;ENSP00000352780:T798M;ENSP00000286445:T798M;ENSP00000446047:T746M;ENSP00000446024:T690M;ENSP00000446011:T638M	.|.	R|T	-|-	1|2	2|0	GRIP1|GRIP1	65072426|65072426	1.000000|1.000000	0.71417|0.71417	0.237000|0.237000	0.24090|0.24090	0.191000|0.191000	0.23601|0.23601	9.633000|9.633000	0.98432|0.98432	2.691000|2.691000	0.91804|0.91804	0.561000|0.561000	0.74099|0.74099	CGG|ACG	0	NULL		0.537	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	29	139	0	0.00	0	0	G		rs200363939	G->A		66786159	-1	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	36	123	16.28	18.54	7	28	SNP	0.986	A
DCN	1634	genome.wustl.edu	37	12	91550887	91550887	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:91550887C>T	ENST00000052754.5	-	5	1118	c.617G>A	c.(616-618)cGc>cAc	p.R206H	DCN_ENST00000552962.1_Missense_Mutation_p.R206H|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.R97H|DCN_ENST00000228329.5_Missense_Mutation_p.R97H|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.R206H|DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	206					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATCAGCAATGCGGATGTAGGA	0.373																																							0											0													135.0	129.0	131.0					12																	91550887		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.617G>A	12.37:g.91550887C>T	ENSP00000052754:p.Arg206His		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.R206H	ENST00000052754.5	37	c.617	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932566	0.92458	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.57595	0.39;3.62;0.39;0.39;3.62	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.75728	-0.3216	10	0.54805	T	0.06	.	19.7971	0.96490	0.0:1.0:0.0:0.0	.	206;97	P07585;P07585-2	PGS2_HUMAN;.	H	206;97;206;206;97	ENSP00000052754:R206H;ENSP00000228329:R97H;ENSP00000376862:R206H;ENSP00000447654:R206H;ENSP00000413723:R97H	ENSP00000052754:R206H	R	-	2	0	DCN	90075018	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.484000	0.81180	2.666000	0.90696	0.585000	0.79938	CGC	0	pirsf_SLRP_I_decor/aspor/byglycan		0.373	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	protein_coding	OTTHUMT00000406799.3	49	196	2	0.00	1	0	C	NM_133507	0	0		91550887	-1	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	24	158	36.84	28.38	14	63	SNP	1	T
C12orf74	338809	genome.wustl.edu	37	12	93100478	93100478	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:93100478T>G	ENST00000397833.3	+	2	522	c.71T>G	c.(70-72)cTg>cGg	p.L24R	C12orf74_ENST00000544406.2_Missense_Mutation_p.L24R	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	24										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CGGCCCTCGCTGAGGAGCCTG	0.567																																							0											0													32.0	35.0	34.0					12																	93100478		1909	4120	6029	SO:0001583	missense	0			BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.71T>G	12.37:g.93100478T>G	ENSP00000380933:p.Leu24Arg		F5H4P0	Missense_Mutation	SNP	NULL	p.L24R	ENST00000397833.3	37	c.71	CCDS41819.1	12	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702034	0.48307	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.87	-9.73	0.00512	.	.	.	.	.	T	0.15046	0.0363	N	0.24115	0.695	0.09310	N	1	B;B	0.28208	0.203;0.203	B;B	0.24006	0.05;0.05	T	0.09684	-1.0663	8	0.25751	T	0.34	.	3.0352	0.06119	0.1929:0.2866:0.3903:0.1303	.	24;24	F5H4P0;Q32Q52	.;CL074_HUMAN	R	24	.	ENSP00000380933:L24R	L	+	2	0	C12orf74	91624609	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.816000	0.00752	-2.053000	0.00901	-0.379000	0.06801	CTG	0	NULL		0.567	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C12orf74	protein_coding	OTTHUMT00000407285.1	48	99	0	0.00	0	0	T	NM_001037671	0	0		93100478	1	no_errors	ENST00000397833	ensembl	human	known	74_37	missense	46	105	13.21	25.00	7	35	SNP	0	G
LTA4H	4048	genome.wustl.edu	37	12	96394809	96394809	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:96394809G>A	ENST00000228740.2	-	19	1935	c.1794C>T	c.(1792-1794)ccC>ccT	p.P598P	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Silent_p.P574P	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	598					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P598P(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TTGCAGTCACGGGATGCATGC	0.393																																							0											1	Substitution - coding silent(1)	lung(1)											138.0	127.0	131.0					12																	96394809		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1794C>T	12.37:g.96394809G>A			B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase	p.P598	ENST00000228740.2	37	c.1794	CCDS9059.1	12																																																																																			0	pfam_Peptidase_M1_C,superfamily_ARM-type_fold,tigrfam_Leukotriene_A4_hydrolase		0.393	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA4H	protein_coding	OTTHUMT00000408655.1	108	200	0	0.00	0	0	G	NM_000895	0	0		96394809	-1	no_errors	ENST00000228740	ensembl	human	known	74_37	silent	65	173	20.73	34.96	17	93	SNP	0.005	A
PRDM4	11108	genome.wustl.edu	37	12	108145770	108145770	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:108145770C>T	ENST00000228437.5	-	5	1007	c.548G>A	c.(547-549)gGc>gAc	p.G183D	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	183					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CACCTCATGGCCATCACTGGG	0.478																																							0											0													147.0	130.0	136.0					12																	108145770		2203	4300	6503	SO:0001583	missense	0			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.548G>A	12.37:g.108145770C>T	ENSP00000228437:p.Gly183Asp		Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.G183D	ENST00000228437.5	37	c.548	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559901	0.45590	.	.	ENSG00000110851	ENST00000228437	D	0.82526	-1.62	5.66	3.77	0.43336	.	0.481313	0.24620	N	0.036971	T	0.69886	0.3161	N	0.14661	0.345	0.40538	D	0.98099	B	0.02656	0.0	B	0.04013	0.001	T	0.68606	-0.5364	10	0.87932	D	0	.	11.5784	0.50877	0.0:0.8078:0.1246:0.0677	.	183	Q9UKN5	PRDM4_HUMAN	D	183	ENSP00000228437:G183D	ENSP00000228437:G183D	G	-	2	0	PRDM4	106669900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.308000	0.43690	1.387000	0.46486	0.655000	0.94253	GGC	0	pirsf_Znf_PRDM4		0.478	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	protein_coding	OTTHUMT00000406546.1	67	236	0	0.00	0	0	C	NM_012406	0	0		108145770	-1	no_errors	ENST00000228437	ensembl	human	known	74_37	missense	46	186	28.12	29.28	18	77	SNP	1	T
TCHP	84260	genome.wustl.edu	37	12	110353318	110353318	+	Silent	SNP	G	G	A	rs368260508		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:110353318G>A	ENST00000312777.5	+	12	1645	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A	TCHP_ENST00000405876.4_Silent_p.A477A	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AGCAGGAGGCGGAGACTATGG	0.657																																							0											0								G	,	0,4406		0,0,2203	31.0	30.0	30.0		1431,1431	-11.7	0.0	12		30	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TCHP	NM_001143852.1,NM_032300.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	477/499,477/499	110353318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1431G>A	12.37:g.110353318G>A				Silent	SNP	NULL	p.A477	ENST00000312777.5	37	c.1431	CCDS9137.1	12																																																																																			0	NULL		0.657	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	protein_coding	OTTHUMT00000403289.1	61	40	0	0.00	0	0	G	NM_032300	rs368260508	G->A		110353318	1	no_errors	ENST00000312777	ensembl	human	known	74_37	silent	27	32	25	38.46	9	20	SNP	0	A
CCDC63	160762	genome.wustl.edu	37	12	111291293	111291293	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:111291293C>T	ENST00000308208.5	+	3	336	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	CCDC63_ENST00000545036.1_5'UTR|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	32										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGCAGAGCTCCGGAAGCTAAG	0.527																																							0											0													68.0	69.0	69.0					12																	111291293		2203	4300	6503	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.94C>T	12.37:g.111291293C>T	ENSP00000312399:p.Arg32Trp		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.R32W	ENST00000308208.5	37	c.94	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092621	0.56075	.	.	ENSG00000173093	ENST00000308208	T	0.32272	1.46	5.33	2.24	0.28232	.	0.690014	0.14082	N	0.342643	T	0.47266	0.1436	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.19844	-1.0293	10	0.38643	T	0.18	.	5.5734	0.17210	0.3509:0.5564:0.0:0.0926	.	32	Q8NA47	CCD63_HUMAN	W	32	ENSP00000312399:R32W	ENSP00000312399:R32W	R	+	1	2	CCDC63	109775676	0.010000	0.17322	0.041000	0.18516	0.922000	0.55478	0.275000	0.18698	0.710000	0.31997	0.561000	0.74099	CGG	0	NULL		0.527	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	protein_coding	OTTHUMT00000404673.2	69	137	0	0.00	0	0	C	NM_152591	0	0		111291293	1	no_errors	ENST00000308208	ensembl	human	known	74_37	missense	38	116	42.42	28.40	28	46	SNP	0.008	T
NAA25	80018	genome.wustl.edu	37	12	112479884	112479884	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:112479884C>T	ENST00000261745.4	-	20	2647	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	800						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATTTTCTATTCGTTCCTGAAT	0.299																																							0											0													74.0	69.0	71.0					12																	112479884		2192	4294	6486	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2399G>A	12.37:g.112479884C>T	ENSP00000261745:p.Arg800Gln		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.R800Q	ENST00000261745.4	37	c.2399	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571399	0.45798	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	T	0.22945	1.93	5.9	5.9	0.94986	.	0.120505	0.56097	D	0.000030	T	0.13798	0.0334	N	0.12746	0.255	0.30026	N	0.813897	B	0.18166	0.026	B	0.04013	0.001	T	0.12400	-1.0549	10	0.13108	T	0.6	-7.3169	12.5473	0.56208	0.0:0.9245:0.0:0.0755	.	800	Q14CX7	NAA25_HUMAN	Q	800;6	ENSP00000261745:R800Q	ENSP00000261745:R800Q	R	-	2	0	NAA25	110964267	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	3.092000	0.50207	2.791000	0.96007	0.655000	0.94253	CGA	0	NULL		0.299	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	protein_coding	OTTHUMT00000405205.1	67	289	0	0.00	0	0	C	NM_024953	0	0		112479884	-1	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	30	249	31.82	26.76	14	91	SNP	0.999	T
HECTD4	283450	genome.wustl.edu	37	12	112750858	112750858	+	5'UTR	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:112750858C>T	ENST00000430131.2	-	0	842				HECTD4_ENST00000550722.1_Silent_p.A149A|HECTD4_ENST00000377560.5_Silent_p.A149A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCTATCCGGCGCAGGCAACA	0.428																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.-304G>A	12.37:g.112750858C>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.A149	ENST00000430131.2	37	c.447		12																																																																																			0	NULL		0.428	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		40	146	0	0.00	0	0	C	NM_173813	0	0		112750858	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	21	129	27.59	25.00	8	43	SNP	0.032	T
WSB2	55884	genome.wustl.edu	37	12	118480647	118480647	+	Splice_Site	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:118480647G>A	ENST00000315436.3	-	4	699	c.558C>T	c.(556-558)caC>caT	p.H186H	WSB2_ENST00000441406.2_Splice_Site_p.H203H|WSB2_ENST00000542304.1_De_novo_Start_InFrame|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Splice_Site_p.H188H	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	186					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCCATACCGTGTTTATTCA	0.433																																							0											0													151.0	152.0	151.0					12																	118480647		2203	4300	6503	SO:0001630	splice_region_variant	0			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.559+1C>T	12.37:g.118480647G>A			B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H186	ENST00000315436.3	37	c.558	CCDS9186.1	12																																																																																			0	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.433	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB2	protein_coding	OTTHUMT00000401515.1	59	260	0	0.38	0	1	G	NM_018639	0	0	Silent	118480647	-1	no_errors	ENST00000315436	ensembl	human	known	74_37	silent	39	205	40.91	28.97	27	84	SNP	0.952	A
RAB35	11021	genome.wustl.edu	37	12	120536641	120536641	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:120536641C>T	ENST00000229340.5	-	5	639	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	151					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A151T(1)		endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		TTCTCCTTGGCGCTGGTCTCG	0.597																																							0											1	Substitution - Missense(1)	endometrium(1)											92.0	98.0	96.0					12																	120536641		2092	4217	6309	SO:0001583	missense	0			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.451G>A	12.37:g.120536641C>T	ENSP00000229340:p.Ala151Thr		B2R6E0|B4E390	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A151T	ENST00000229340.5	37	c.451	CCDS41846.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.303990	0.95601	.	.	ENSG00000111737	ENST00000229340;ENST00000538903	D;D	0.88741	-2.42;-2.42	5.3	4.39	0.52855	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96093	0.8727	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.97286	0.9921	10	0.87932	D	0	.	15.8617	0.79026	0.0:0.8638:0.1362:0.0	.	151	Q15286	RAB35_HUMAN	T	151;135	ENSP00000229340:A151T;ENSP00000443994:A135T	ENSP00000229340:A151T	A	-	1	0	RAB35	119021024	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	7.544000	0.82117	1.188000	0.43014	0.655000	0.94253	GCC	0	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	protein_coding	OTTHUMT00000402599.2	23	111	0	0.00	0	0	C		0	0		120536641	-1	no_errors	ENST00000229340	ensembl	human	known	74_37	missense	14	87	30	28.10	6	34	SNP	1	T
ORAI1	84876	genome.wustl.edu	37	12	122079267	122079267	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:122079267G>A	ENST00000330079.7	+	2	823	c.630G>A	c.(628-630)caG>caA	p.Q210Q		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	208					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCCAGGCCAGCCAAGGCCCA	0.672																																							0											0													32.0	43.0	39.0					12																	122079267		2200	4299	6499	SO:0001819	synonymous_variant	0			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.630G>A	12.37:g.122079267G>A			Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Silent	SNP	pfam_CRAC_channel	p.Q210	ENST00000330079.7	37	c.630	CCDS41851.1	12																																																																																			0	pfam_CRAC_channel		0.672	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI1	protein_coding	OTTHUMT00000402151.1	57	68	0	0.00	0	0	G	NM_032790	0	0		122079267	1	no_errors	ENST00000330079	ensembl	human	known	74_37	silent	20	45	16.67	25.00	4	15	SNP	0.677	A
TCTN2	79867	genome.wustl.edu	37	12	124189166	124189166	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:124189166G>A	ENST00000303372.5	+	15	1828	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Missense_Mutation_p.R566H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	567					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGAGCATCCGCATCCTCATC	0.522																																							0											0													82.0	65.0	70.0					12																	124189166		2203	4300	6503	SO:0001583	missense	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1700G>A	12.37:g.124189166G>A	ENSP00000304941:p.Arg567His		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.R567H	ENST00000303372.5	37	c.1700	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853248	0.32699	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82984	-1.67;-1.67	5.7	4.81	0.61882	.	0.125468	0.56097	D	0.000035	T	0.75117	0.3806	M	0.63428	1.95	0.37849	D	0.929329	P;P	0.41366	0.747;0.747	B;B	0.27608	0.081;0.081	T	0.77998	-0.2376	10	0.41790	T	0.15	-21.5599	10.4535	0.44537	0.1491:0.0:0.8509:0.0	.	566;567	A8K7Y8;Q96GX1	.;TECT2_HUMAN	H	566;567	ENSP00000395171:R566H;ENSP00000304941:R567H	ENSP00000304941:R567H	R	+	2	0	TCTN2	122755119	0.997000	0.39634	1.000000	0.80357	0.376000	0.30014	0.877000	0.28106	1.556000	0.49512	0.650000	0.86243	CGC	0	NULL		0.522	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	protein_coding	OTTHUMT00000400652.1	49	54	0	0.00	0	0	G	NM_024809	0	0		124189166	1	no_errors	ENST00000303372	ensembl	human	known	74_37	missense	34	65	24.44	22.62	11	19	SNP	0.994	A
DHX37	57647	genome.wustl.edu	37	12	125465190	125465190	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:125465190G>A	ENST00000308736.2	-	4	682	c.584C>T	c.(583-585)aCc>aTc	p.T195I	DHX37_ENST00000544745.1_5'UTR	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	195							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGTGCCACGGTGGTCCCCAC	0.687																																							0											0													37.0	37.0	37.0					12																	125465190		2200	4297	6497	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.584C>T	12.37:g.125465190G>A	ENSP00000311135:p.Thr195Ile		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T195I	ENST00000308736.2	37	c.584	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347160	0.41599	.	.	ENSG00000150990	ENST00000308736	T	0.09911	2.93	4.98	-6.06	0.02165	.	2.517180	0.01378	N	0.012818	T	0.05686	0.0149	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30909	-0.9962	10	0.37606	T	0.19	-0.9937	0.7079	0.00919	0.2996:0.1037:0.2768:0.3199	.	195	Q8IY37	DHX37_HUMAN	I	195	ENSP00000311135:T195I	ENSP00000311135:T195I	T	-	2	0	DHX37	124031143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.112000	0.03299	-0.772000	0.04602	0.650000	0.86243	ACC	0	NULL		0.687	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	protein_coding		66	35	0	0.00	0	0	G	NM_032656	0	0		125465190	-1	no_errors	ENST00000308736	ensembl	human	known	74_37	missense	36	27	30.77	35.71	16	15	SNP	0	A
TMEM132C	92293	genome.wustl.edu	37	12	129178485	129178485	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:129178485G>A	ENST00000435159.2	+	6	1561	c.1561G>A	c.(1561-1563)Gtg>Atg	p.V521M	TMEM132C_ENST00000315208.8_Missense_Mutation_p.V137M|TMEM132C_ENST00000537538.1_5'UTR	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	521						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GTGTGTCACCGTGTGGGTGCC	0.557																																							0											0													41.0	40.0	40.0					12																	129178485		692	1591	2283	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1561G>A	12.37:g.129178485G>A	ENSP00000410852:p.Val521Met		Q69YX8	Missense_Mutation	SNP	NULL	p.V521M	ENST00000435159.2	37	c.1561		12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337259	0.81911	.	.	ENSG00000181234	ENST00000435159;ENST00000315208	T;T	0.56444	0.46;0.46	5.0	5.0	0.66597	.	0.107651	0.40302	N	0.001128	T	0.73830	0.3637	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78590	-0.2145	10	0.87932	D	0	.	11.7663	0.51933	0.0807:0.0:0.9193:0.0	.	521	Q8N3T6	T132C_HUMAN	M	521;137	ENSP00000410852:V521M;ENSP00000324458:V137M	ENSP00000324458:V137M	V	+	1	0	TMEM132C	127744438	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	6.489000	0.73641	2.318000	0.78349	0.467000	0.42956	GTG	0	NULL		0.557	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	protein_coding		54	140	0	1.41	0	2	G	XM_044062	0	0		129178485	1	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	26	123	35	29.31	14	51	SNP	1	A
EP400	57634	genome.wustl.edu	37	12	132445390	132445390	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:132445390C>A	ENST00000333577.4	+	2	335	c.226C>A	c.(226-228)Ctg>Atg	p.L76M	EP400_ENST00000389561.2_Missense_Mutation_p.L76M|EP400_ENST00000330386.6_Missense_Mutation_p.L76M|EP400_ENST00000389562.2_Missense_Mutation_p.L76M|EP400_ENST00000332482.4_Missense_Mutation_p.L76M			Q96L91	EP400_HUMAN	E1A binding protein p400	76					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAACATCACCCTGCAGAGCGT	0.627																																							0											0													59.0	61.0	60.0					12																	132445390		2203	4300	6503	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.226C>A	12.37:g.132445390C>A	ENSP00000333602:p.Leu76Met		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L76M	ENST00000333577.4	37	c.226		12	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525357	0.27299	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.96200	-3.69;-3.89;-3.9;-3.94;-3.88	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	D	0.97414	0.9154	M	0.78637	2.42	0.30748	N	0.745453	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.95805	0.8836	10	0.87932	D	0	.	14.0238	0.64573	0.0:0.9277:0.0:0.0722	.	76;76;76;76;76	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	M	76	ENSP00000333602:L76M;ENSP00000374212:L76M;ENSP00000374213:L76M;ENSP00000331737:L76M;ENSP00000330620:L76M	ENSP00000330620:L76M	L	+	1	2	EP400	131011343	0.994000	0.37717	1.000000	0.80357	0.977000	0.68977	2.945000	0.49043	2.692000	0.91855	0.563000	0.77884	CTG	0	NULL		0.627	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		99	77	0	0.00	0	0	C	NM_015409	0	0		132445390	1	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	51	47	30.14	33.80	22	24	SNP	0.994	A
DDX51	317781	genome.wustl.edu	37	12	132624232	132624232	+	Missense_Mutation	SNP	G	G	A	rs201039066	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:132624232G>A	ENST00000397333.3	-	14	1960	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	641					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AGGAACCAGCGGCTGCAGCAG	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17547	0.0		0.0	False		,,,				2504	0.001						0.9996,0.0003994											0								G	LEU/PRO	1,4005		0,1,2002	41.0	47.0	45.0		1922	3.7	1.0	12		45	0,8314		0,0,4157	yes	missense	DDX51	NM_175066.3	98	0,1,6159	AA,AG,GG		0.0,0.025,0.0081	benign	641/667	132624232	1,12319	2003	4157	6160	SO:0001583	missense	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1922C>T	12.37:g.132624232G>A	ENSP00000380495:p.Pro641Leu		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P641L	ENST00000397333.3	37	c.1922	CCDS41865.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.219	0.408573	0.11812	2.5E-4	0.0	ENSG00000185163	ENST00000397333	T	0.01981	4.52	4.59	3.7	0.42460	.	0.487933	0.22929	N	0.053931	T	0.03178	0.0093	M	0.69823	2.125	0.25224	N	0.989885	B	0.31893	0.345	B	0.28465	0.09	T	0.36432	-0.9748	10	0.37606	T	0.19	-24.2995	5.7866	0.18336	0.1006:0.0:0.7085:0.1909	.	641	Q8N8A6	DDX51_HUMAN	L	641	ENSP00000380495:P641L	ENSP00000380495:P641L	P	-	2	0	DDX51	131190185	0.999000	0.42202	0.956000	0.39512	0.015000	0.08874	3.208000	0.51114	0.918000	0.36919	0.563000	0.77884	CCG	0	NULL		0.612	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	protein_coding	OTTHUMT00000398978.1	23	57	0	0.00	0	0	G	NM_175066	rs201039066	G->A		132624232	-1	no_errors	ENST00000397333	ensembl	human	known	74_37	missense	8	49	55.56	33.78	10	25	SNP	0.213	A
MPHOSPH8	54737	genome.wustl.edu	37	13	20222608	20222608	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:20222608G>A	ENST00000361479.5	+	4	1333	c.1265G>A	c.(1264-1266)aGg>aAg	p.R422K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R422K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	422					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TATCAGAAAAGGCATGATTCT	0.318																																							0											0													59.0	56.0	57.0					13																	20222608		2203	4299	6502	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1265G>A	13.37:g.20222608G>A	ENSP00000355388:p.Arg422Lys		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.R422K	ENST00000361479.5	37	c.1265	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	0.293	-0.978584	0.02197	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.33654	1.4;1.42	4.78	0.934	0.19477	.	0.714844	0.13327	N	0.396260	T	0.19406	0.0466	N	0.26042	0.785	0.20638	N	0.999872	B;B;B	0.14012	0.009;0.001;0.009	B;B;B	0.14023	0.01;0.001;0.006	T	0.32079	-0.9920	10	0.06494	T	0.89	.	7.4304	0.27124	0.5796:0.0:0.4203:0.0	.	422;422;422	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	K	422	ENSP00000414663:R422K;ENSP00000355388:R422K	ENSP00000355388:R422K	R	+	2	0	MPHOSPH8	19120608	0.866000	0.29940	0.444000	0.26895	0.075000	0.17131	0.067000	0.14510	0.158000	0.19367	-0.145000	0.13849	AGG	0	NULL		0.318	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	protein_coding	OTTHUMT00000044028.2	43	225	0	0.44	0	1	G	NM_017520	0	0		20222608	1	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	14	166	33.33	29.36	7	69	SNP	0.529	A
PARP4	143	genome.wustl.edu	37	13	25008754	25008754	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:25008754C>T	ENST00000381989.3	-	31	4630	c.4525G>A	c.(4525-4527)Gaa>Aaa	p.E1509K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1509					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGACTTCCTTCGAGACTGCCT	0.448																																							0											0													73.0	75.0	74.0					13																	25008754		2203	4300	6503	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4525G>A	13.37:g.25008754C>T	ENSP00000371419:p.Glu1509Lys		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.E1509K	ENST00000381989.3	37	c.4525	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	c	0.058	-1.230354	0.01518	.	.	ENSG00000102699	ENST00000381989	T	0.01745	4.66	1.85	-3.7	0.04437	.	2.904290	0.01886	U	0.038224	T	0.01695	0.0054	L	0.36672	1.1	0.09310	N	1	B	0.28801	0.223	B	0.11329	0.006	T	0.42430	-0.9452	10	0.27082	T	0.32	.	5.0666	0.14585	0.2615:0.4603:0.2782:0.0	.	1509	Q9UKK3	PARP4_HUMAN	K	1509	ENSP00000371419:E1509K	ENSP00000371419:E1509K	E	-	1	0	PARP4	23906754	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.340000	0.19892	-1.685000	0.01441	-0.521000	0.04368	GAA	0	NULL		0.448	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	protein_coding	OTTHUMT00000044189.1	26	135	0	0.00	0	0	C	NM_006437	0	0		25008754	-1	no_errors	ENST00000381989	ensembl	human	known	74_37	missense	26	81	25.71	36.22	9	46	SNP	0	T
BRCA2	675	genome.wustl.edu	37	13	32968921	32968921	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:32968921A>G	ENST00000380152.3	+	25	9585	c.9352A>G	c.(9352-9354)Atg>Gtg	p.M3118V	BRCA2_ENST00000544455.1_Missense_Mutation_p.M3118V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3118			M -> T (in BC). {ECO:0000269|PubMed:9609997}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAGCCTCATATGTTAATTGC	0.393			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		0	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													97.0	90.0	93.0					13																	32968921		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9352A>G	13.37:g.32968921A>G	ENSP00000369497:p.Met3118Val		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.M3118V	ENST00000380152.3	37	c.9352	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	A	5.960	0.361035	0.11296	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.77489	-1.1;-1.1	5.89	-3.8	0.04307	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.882884	0.10249	N	0.697453	T	0.47154	0.1430	N	0.03324	-0.35	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.38045	-0.9679	10	0.13108	T	0.6	.	6.2395	0.20783	0.3439:0.0:0.4205:0.2356	.	3118	P51587	BRCA2_HUMAN	V	3118	ENSP00000369497:M3118V;ENSP00000439902:M3118V	ENSP00000369497:M3118V	M	+	1	0	BRCA2	31866921	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	-0.356000	0.07661	-0.654000	0.05394	-0.385000	0.06624	ATG	0	pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	protein_coding	OTTHUMT00000046000.2	148	271	0	0.00	0	0	A	NM_000059	0	0		32968921	1	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	69	232	28.87	29.18	28	96	SNP	0	G
NBEA	26960	genome.wustl.edu	37	13	35729943	35729943	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:35729943A>G	ENST00000400445.3	+	19	3012	c.2478A>G	c.(2476-2478)gtA>gtG	p.V826V	NBEA_ENST00000379939.2_Silent_p.V826V|NBEA_ENST00000310336.4_Silent_p.V826V|NBEA_ENST00000540320.1_Silent_p.V826V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	826					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTCAGGTCGTACACAAACCAC	0.338																																							0											0													118.0	111.0	113.0					13																	35729943		1886	4116	6002	SO:0001819	synonymous_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2478A>G	13.37:g.35729943A>G			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.V826	ENST00000400445.3	37	c.2478	CCDS45026.1	13																																																																																			0	superfamily_ARM-type_fold		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		53	181	0	0.00	0	0	A	NM_015678	0	0		35729943	1	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	26	159	28.95	30.57	11	70	SNP	0.901	G
FREM2	341640	genome.wustl.edu	37	13	39452457	39452457	+	Splice_Site	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:39452457T>C	ENST00000280481.7	+	22	9074	c.8858T>C	c.(8857-8859)gTg>gCg	p.V2953A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2953					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTAAAATTGTGGTAAGTGCT	0.403																																							0											0													57.0	55.0	55.0					13																	39452457		2203	4300	6503	SO:0001630	splice_region_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8859+1T>C	13.37:g.39452457T>C			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V2953A	ENST00000280481.7	37	c.8858	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010019	0.75046	.	.	ENSG00000150893	ENST00000280481	T	0.63744	-0.06	5.93	5.93	0.95920	.	0.063714	0.64402	D	0.000004	T	0.59838	0.2223	L	0.57536	1.79	0.49051	D	0.999745	P	0.36315	0.547	B	0.32928	0.155	T	0.64812	-0.6319	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	2953	Q5SZK8	FREM2_HUMAN	A	2953	ENSP00000280481:V2953A	ENSP00000280481:V2953A	V	+	2	0	FREM2	38350457	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.998000	0.88491	2.270000	0.75569	0.482000	0.46254	GTG	0	NULL		0.403	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	59	189	0	0.00	0	0	T	NM_207361	0	0	Missense_Mutation	39452457	1	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	25	213	30.56	19.92	11	53	SNP	1	C
VWA8	23078	genome.wustl.edu	37	13	42481721	42481721	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:42481721C>T	ENST00000379310.3	-	4	552		c.e4+1		RNU6-74P_ENST00000384235.1_RNA|VWA8_ENST00000281496.6_Splice_Site	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8							extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACAGAACTTGCCTGATCAATG	0.443																																							0											0													181.0	140.0	154.0					13																	42481721		2203	4300	6503	SO:0001630	splice_region_variant	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.483+1G>A	13.37:g.42481721C>T			O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Splice_Site	SNP	0	e4+1	ENST00000379310.3	37	c.483+1	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557254	0.86231	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8058	0.92037	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0564	41379721	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.536000	0.82023	2.518000	0.84900	0.591000	0.81541	.	0	0		0.443	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	protein_coding	OTTHUMT00000354828.2	41	152	0	0.00	0	0	C	NM_015058	0	0	Intron	42481721	-1	no_errors	ENST00000379310	ensembl	human	known	74_37	splice_site	14	163	41.67	23.36	10	50	SNP	1	T
SERP2	387923	genome.wustl.edu	37	13	44953801	44953801	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:44953801G>A	ENST00000379179.3	+	2	293	c.109G>A	c.(109-111)Gtg>Atg	p.V37M		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	37					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		GAAATATCCTGTGGGACCATG	0.413																																							0											0													269.0	232.0	245.0					13																	44953801		2203	4300	6503	SO:0001583	missense	0			BC029067	CCDS31965.1	13q14.11	2008-02-05	2007-12-07	2007-12-07	ENSG00000151778	ENSG00000151778			20607	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 21"""	C13orf21			Standard	NM_001010897		Approved	bA269C23.1	uc001uzj.3	Q8N6R1	OTTHUMG00000016833	ENST00000379179.3:c.109G>A	13.37:g.44953801G>A	ENSP00000368477:p.Val37Met			Missense_Mutation	SNP	pfam_ER_stress-assoc	p.V37M	ENST00000379179.3	37	c.109	CCDS31965.1	13	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465149	0.84425	.	.	ENSG00000151778	ENST00000379179	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	.	.	.	0.80722	D	1	D	0.61697	0.99	D	0.63957	0.92	T	0.78489	-0.2184	8	0.56958	D	0.05	.	16.7844	0.85570	0.0:0.0:1.0:0.0	.	37	Q8N6R1	SERP2_HUMAN	M	37	.	ENSP00000368477:V37M	V	+	1	0	SERP2	43851801	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.176000	0.89686	2.819000	0.97034	0.585000	0.79938	GTG	0	pfam_ER_stress-assoc		0.413	SERP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERP2	protein_coding	OTTHUMT00000044736.1	98	320	0	0.00	0	0	G	NM_001010897	0	0		44953801	1	no_errors	ENST00000493476	ensembl	human	known	74_37	missense	50	221	24.24	31.91	16	105	SNP	1	A
ZC3H13	23091	genome.wustl.edu	37	13	46553965	46553965	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:46553965C>T	ENST00000242848.4	-	11	2243	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	632	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTGTTGTCACGACGGTCTCG	0.373																																					Esophageal Squamous(187;747 2077 11056 31291 44172)		0											0													153.0	144.0	147.0					13																	46553965		2203	4300	6503	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1895G>A	13.37:g.46553965C>T	ENSP00000242848:p.Arg632His		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R632H	ENST00000242848.4	37	c.1895		13	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157907	0.57368	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.34859	2.36;1.34	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	T	0.53222	0.1783	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.29640	-1.0005	10	0.32370	T	0.25	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	632;632	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	632;632;448	ENSP00000242848:R632H;ENSP00000282007:R632H	ENSP00000242848:R632H	R	-	2	0	ZC3H13	45451966	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.104000	0.71498	2.937000	0.99478	0.650000	0.86243	CGT	0	NULL		0.373	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	protein_coding	OTTHUMT00000044789.1	74	229	0	0.00	0	0	C	NM_015070	0	0		46553965	-1	no_errors	ENST00000242848	ensembl	human	known	74_37	missense	60	230	21.05	29.01	16	94	SNP	1	T
CAB39L	81617	genome.wustl.edu	37	13	49906183	49906183	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:49906183A>G	ENST00000355854.4	-	8	1231	c.734T>C	c.(733-735)aTg>aCg	p.M245T	CAB39L_ENST00000409308.1_Missense_Mutation_p.M245T|CAB39L_ENST00000410043.1_Missense_Mutation_p.M245T|CAB39L_ENST00000409130.1_Missense_Mutation_p.M101T|CAB39L_ENST00000347776.5_Missense_Mutation_p.M245T	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	245					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ATACTTTGTCATGATGGCAAA	0.433																																							0											0													163.0	149.0	154.0					13																	49906183		2203	4300	6503	SO:0001583	missense	0			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.734T>C	13.37:g.49906183A>G	ENSP00000348113:p.Met245Thr		Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Missense_Mutation	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.M245T	ENST00000355854.4	37	c.734	CCDS9416.2	13	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132729	0.77662	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000409130;ENST00000425242;ENST00000410043	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	H	0.96301	3.8	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.81801	-0.0766	9	.	.	.	-32.5563	15.5755	0.76380	1.0:0.0:0.0:0.0	.	245	Q9H9S4	CB39L_HUMAN	T	245;245;222;245;101;188;245	ENSP00000348113:M245T;ENSP00000261669:M245T;ENSP00000386375:M245T;ENSP00000387245:M101T;ENSP00000416719:M188T;ENSP00000386328:M245T	.	M	-	2	0	CAB39L	48804184	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	ATG	0	pfam_Mo25,superfamily_ARM-type_fold		0.433	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	protein_coding	OTTHUMT00000044908.3	59	240	0	0.00	0	0	A	NM_030925	0	0		49906183	-1	no_errors	ENST00000347776	ensembl	human	known	74_37	missense	28	189	30.95	27.86	13	73	SNP	1	G
SETDB2	83852	genome.wustl.edu	37	13	50056925	50056925	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:50056925C>T	ENST00000317257.8	+	10	2070	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	SETDB2_ENST00000258672.5_Silent_p.N403N|SETDB2_ENST00000354234.4_Silent_p.N403N	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	415	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TTGATGAAAACGGGAGAGATG	0.318																																							0											0													48.0	51.0	50.0					13																	50056925		2203	4298	6501	SO:0001819	synonymous_variant	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1245C>T	13.37:g.50056925C>T			Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.N415	ENST00000317257.8	37	c.1245	CCDS9417.1	13																																																																																			0	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.318	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	protein_coding	OTTHUMT00000044925.1	112	233	0	0.00	0	0	C	NM_031915	0	0		50056925	1	no_errors	ENST00000317257	ensembl	human	known	74_37	silent	50	190	15.25	26.36	9	68	SNP	0	T
ATP7B	540	genome.wustl.edu	37	13	52520508	52520508	+	Missense_Mutation	SNP	G	G	A	rs41292782		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:52520508G>A	ENST00000242839.4	-	13	3128	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.T263M|ATP7B_ENST00000400366.3_Missense_Mutation_p.T880M|ATP7B_ENST00000344297.5_Missense_Mutation_p.T784M|ATP7B_ENST00000448424.2_Missense_Mutation_p.T913M|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.T561M	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	991			T -> M (in WD; dbSNP:rs41292782). {ECO:0000269|PubMed:16088907}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGCCGTGGGCGTGGCCAGCCC	0.632									Wilson disease				G|||	1	0.000199681	0.0	0.0	5008	,	,		17330	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0			GRCh37	CM053119	ATP7B	M	rs41292782	G	MET/THR,MET/THR	3,3995		0,3,1996	49.0	53.0	52.0		2972,2351	5.2	1.0	13	dbSNP_127	52	20,8312		0,20,4146	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	81,81	0,23,6142	AA,AG,GG		0.24,0.075,0.1865	probably-damaging,probably-damaging	991/1466,784/1259	52520508	23,12307	1999	4166	6165	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2972C>T	13.37:g.52520508G>A	ENSP00000242839:p.Thr991Met		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.T991M	ENST00000242839.4	37	c.2972	CCDS41892.1	13	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	20.8	4.054460	0.75960	7.5E-4	0.0024	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.39	5.15	5.15	0.70609	ATPase, P-type, ATPase-associated domain (1);	0.088973	0.85682	D	0.000000	D	0.97068	0.9042	H	0.96175	3.78	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.786;0.961;1.0;1.0	D;D;D;B;B;D;D	0.97110	0.997;0.999;1.0;0.073;0.261;0.999;0.999	D	0.98057	1.0391	10	0.87932	D	0	-19.8496	18.8116	0.92059	0.0:0.0:1.0:0.0	rs41292782	913;943;263;561;880;784;991	E7ET55;B7ZLR4;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	M	991;880;784;263;913;561	ENSP00000242839:T991M;ENSP00000383217:T880M;ENSP00000342559:T784M;ENSP00000390360:T263M;ENSP00000416738:T913M;ENSP00000383221:T561M	ENSP00000242839:T991M	T	-	2	0	ATP7B	51418509	1.000000	0.71417	0.974000	0.42286	0.879000	0.50718	9.595000	0.98260	2.698000	0.92095	0.650000	0.86243	ACG	0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB		0.632	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	protein_coding	OTTHUMT00000045981.1	37	43	2.63	0.00	1	0	G	NM_000053	rs41292782	G->A		52520508	-1	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	40	36	16.67	20.00	8	9	SNP	1	A
GPC6	10082	genome.wustl.edu	37	13	94197638	94197638	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:94197638C>T	ENST00000377047.4	+	2	898	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	95					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R95C(1)|p.R95S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCATTTTGTGCGCACCACTTT	0.398																																							0											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)											154.0	147.0	149.0					13																	94197638		2203	4300	6503	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.283C>T	13.37:g.94197638C>T	ENSP00000366246:p.Arg95Cys		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.R95C	ENST00000377047.4	37	c.283	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729970	0.69074	.	.	ENSG00000183098	ENST00000377047	T	0.52983	0.64	5.05	3.11	0.35812	.	0.000000	0.64402	D	0.000002	T	0.61438	0.2347	L	0.60455	1.87	0.49798	D	0.999826	D;D	0.89917	1.0;0.999	D;D	0.65443	0.935;0.935	T	0.66006	-0.6030	10	0.72032	D	0.01	.	13.3944	0.60843	0.2943:0.7057:0.0:0.0	.	95;95	B4E2M1;Q9Y625	.;GPC6_HUMAN	C	95	ENSP00000366246:R95C	ENSP00000366246:R95C	R	+	1	0	GPC6	92995639	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	2.806000	0.47947	1.203000	0.43233	0.644000	0.83932	CGC	0	pfam_Glypican		0.398	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	protein_coding	OTTHUMT00000045460.4	117	239	0	0.42	0	1	C	NM_005708	0	0		94197638	1	no_errors	ENST00000377047	ensembl	human	known	74_37	missense	81	235	29.66	26.10	35	83	SNP	0.995	T
CLDN10	9071	genome.wustl.edu	37	13	96205185	96205185	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:96205185G>A	ENST00000299339.2	+	1	207	c.178G>A	c.(178-180)Gtc>Atc	p.V60I	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	60					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CTCCACGGGCGTCTCCAACTG	0.647																																							0											0													91.0	78.0	83.0					13																	96205185		2203	4300	6503	SO:0001583	missense	0			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.178G>A	13.37:g.96205185G>A	ENSP00000299339:p.Val60Ile		Q6IBF9|Q96N78	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin	p.V60I	ENST00000299339.2	37	c.178	CCDS9476.1	13	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853517	0.91355	.	.	ENSG00000134873	ENST00000299339	D	0.89196	-2.48	4.18	4.18	0.49190	Claudin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89581	0.6756	L	0.50919	1.6	0.80722	D	1	D	0.54397	0.966	P	0.54026	0.74	D	0.86991	0.2110	10	0.17369	T	0.5	.	16.6955	0.85334	0.0:0.0:1.0:0.0	.	60	P78369	CLD10_HUMAN	I	60	ENSP00000299339:V60I	ENSP00000299339:V60I	V	+	1	0	CLDN10	95003186	1.000000	0.71417	0.969000	0.41365	0.867000	0.49689	7.347000	0.79356	2.146000	0.66826	0.305000	0.20034	GTC	0	pfam_PMP22/EMP/MP20/Claudin		0.647	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN10	protein_coding	OTTHUMT00000045484.1	69	124	0	0.00	0	0	G	NM_006984	0	0		96205185	1	no_errors	ENST00000299339	ensembl	human	known	74_37	missense	33	97	43.1	27.61	25	37	SNP	1	A
CCDC168	643677	genome.wustl.edu	37	13	103387768	103387768	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:103387768G>A	ENST00000322527.2	-	1	1391	c.1392C>T	c.(1390-1392)aaC>aaT	p.N464N		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	464																	TTCTTATCACGTTCTCCTGTC	0.398																																							0											0													183.0	148.0	159.0					13																	103387768		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.1392C>T	13.37:g.103387768G>A			Q8N800	Silent	SNP	NULL	p.N464	ENST00000322527.2	37	c.1392		13																																																																																			0	NULL		0.398	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	protein_coding		74	235	0	0.00	0	0	G	NM_001146197	0	0		103387768	-1	no_errors	ENST00000322527	ensembl	human	known	74_37	silent	36	202	29.41	27.08	15	75	SNP	0	A
ARGLU1	55082	genome.wustl.edu	37	13	107211856	107211856	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:107211856C>T	ENST00000400198.3	-	2	741	c.497G>A	c.(496-498)cGc>cAc	p.R166H	ARGLU1_ENST00000375926.1_Missense_Mutation_p.A16T|ARGLU1_ENST00000472226.1_5'Flank	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	166	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTCCATGATGCGTTTGGCTTC	0.478																																							0											0													153.0	152.0	152.0					13																	107211856		1920	4134	6054	SO:0001583	missense	0			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.497G>A	13.37:g.107211856C>T	ENSP00000383059:p.Arg166His		B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	NULL	p.R166H	ENST00000400198.3	37	c.497	CCDS41906.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770213|4.770213	0.90108|0.90108	.|.	.|.	ENSG00000134884|ENSG00000134884	ENST00000375926;ENST00000360629|ENST00000400198;ENST00000426600	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71074|0.71074	0.3297|0.3297	L|L	0.46157|0.46157	1.445|1.445	0.35632|0.35632	D|D	0.810307|0.810307	.|D	.|0.76494	.|0.999	.|D	.|0.74674	.|0.984	T|T	0.73799|0.73799	-0.3869|-0.3869	6|9	0.87932|0.38643	D|T	0|0.18	-4.5113|-4.5113	19.451|19.451	0.94867|0.94867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|166	.|Q9NWB6	.|ARGL1_HUMAN	T|H	16|166;116	.|.	ENSP00000353844:A16T|ENSP00000383059:R166H	A|R	-|-	1|2	0|0	ARGLU1|ARGLU1	106009857|106009857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.398000|7.398000	0.79919|0.79919	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0	NULL		0.478	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	protein_coding	OTTHUMT00000045727.1	52	163	0	0.00	0	0	C	NM_018011	0	0		107211856	-1	no_errors	ENST00000400198	ensembl	human	known	74_37	missense	39	135	33.9	29.32	20	56	SNP	1	T
IRS2	8660	genome.wustl.edu	37	13	110434873	110434873	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:110434873G>A	ENST00000375856.3	-	1	4042	c.3528C>T	c.(3526-3528)tcC>tcT	p.S1176S		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1176					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CATTTTCCACGGAGGCCGAGT	0.692																																					Melanoma(100;613 2409 40847)		0											0													3.0	3.0	3.0					13																	110434873		1740	3543	5283	SO:0001819	synonymous_variant	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3528C>T	13.37:g.110434873G>A			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.S1176	ENST00000375856.3	37	c.3528	CCDS9510.1	13																																																																																			0	NULL		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	protein_coding	OTTHUMT00000045755.1	24	80	0	0.00	0	0	G	NM_003749	0	0		110434873	-1	no_errors	ENST00000375856	ensembl	human	known	74_37	silent	16	62	38.46	31.87	10	29	SNP	0.016	A
ARHGEF7	8874	genome.wustl.edu	37	13	111893611	111893611	+	Intron	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:111893611G>A	ENST00000375741.2	+	8	1072				ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_Intron|ARHGEF7_ENST00000375739.2_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Intron|ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000218789.5_Intron|ARHGEF7_ENST00000478679.1_5'UTR|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000370623.3_Intron	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7						apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAGCTGTGGCGTCCAGGCTGT	0.607																																							0											0																																										SO:0001627	intron_variant	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.823-2608G>A	13.37:g.111893611G>A			B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	RNA	SNP	0	NULL	ENST00000375741.2	37	NULL	CCDS45068.1	13																																																																																			0	0		0.607	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	protein_coding		20	157	0	0.00	0	0	G	NM_001113511	0	0		111893611	1	no_errors	ENST00000483189	ensembl	human	known	74_37	rna	12	133	45.45	24.29	10	43	SNP	0	A
TUBGCP3	10426	genome.wustl.edu	37	13	113140327	113140327	+	Missense_Mutation	SNP	G	G	A	rs138098573		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:113140327G>A	ENST00000261965.3	-	22	2890	c.2704C>T	c.(2704-2706)Cgg>Tgg	p.R902W		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	902					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAGCTGCGCCGCCCCCTGGTA	0.592																																							0											0								G	TRP/ARG	0,4400		0,0,2200	22.0	19.0	20.0		2704	4.6	1.0	13	dbSNP_134	20	1,8573		0,1,4286	no	missense	TUBGCP3	NM_006322.4	101	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	902/908	113140327	1,12973	2200	4287	6487	SO:0001583	missense	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2704C>T	13.37:g.113140327G>A	ENSP00000261965:p.Arg902Trp		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_TUBGCP	p.R902W	ENST00000261965.3	37	c.2704	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702791	0.68501	0.0	1.17E-4	ENSG00000126216	ENST00000261965	T	0.27720	1.65	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.977	D;B	0.91635	0.999;0.359	T	0.51529	-0.8694	10	0.45353	T	0.12	-28.3278	13.8112	0.63264	0.0:0.0:0.8368:0.1632	.	892;902	B4DYP7;Q96CW5	.;GCP3_HUMAN	W	902	ENSP00000261965:R902W	ENSP00000261965:R902W	R	-	1	2	TUBGCP3	112188328	0.992000	0.36948	0.995000	0.50966	0.752000	0.42762	1.341000	0.33907	2.262000	0.75019	0.655000	0.94253	CGG	0	NULL		0.592	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	protein_coding	OTTHUMT00000045825.2	54	46	0	0.00	0	0	G	NM_006322	rs138098573	G->A		113140327	-1	no_errors	ENST00000261965	ensembl	human	known	74_37	missense	33	33	23.26	21.43	10	9	SNP	1	A
PCID2	55795	genome.wustl.edu	37	13	113851352	113851352	+	Intron	SNP	C	C	T	rs368517651		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:113851352C>T	ENST00000337344.4	-	4	343				PCID2_ENST00000375457.2_Intron|PCID2_ENST00000375479.2_Intron|PCID2_ENST00000375459.1_Intron|PCID2_ENST00000375477.1_Intron|PCID2_ENST00000246505.5_Missense_Mutation_p.V136I	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AGAGCTGAAACGAGCTTCTGT	0.438																																							0											0								C	,,	2,4404	4.2+/-10.8	0,2,2201	103.0	107.0	106.0		,,	-7.0	0.0	13		106	0,8600		0,0,4300	no	intron,intron,intron	PCID2	NM_001127202.1,NM_001127203.1,NM_018386.2	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	,,	113851352	2,13004	2203	4300	6503	SO:0001627	intron_variant	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.266+139G>A	13.37:g.113851352C>T			A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM	p.V136I	ENST00000337344.4	37	c.406	CCDS9532.2	13	.	.	.	.	.	.	.	.	.	.	C	0.435	-0.901392	0.02453	4.54E-4	0.0	ENSG00000126226	ENST00000246505	.	.	.	3.5	-7.0	0.01599	.	.	.	.	.	T	0.20659	0.0497	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16070	-1.0415	7	0.37606	T	0.19	0.8588	1.6524	0.02774	0.1357:0.3127:0.3121:0.2396	.	136	Q5JVF3-4	.	I	136	.	ENSP00000246505:V136I	V	-	1	0	PCID2	112899353	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.369000	0.07533	-1.813000	0.01226	-1.879000	0.00546	GTT	0	NULL		0.438	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	protein_coding	OTTHUMT00000045897.1	79	266	0	0.00	0	0	C	NM_018386	rs368517651	C->T		113851352	-1	no_errors	ENST00000246505	ensembl	human	known	74_37	missense	45	204	29.69	28.67	19	82	SNP	0	T
CUL4A	8451	genome.wustl.edu	37	13	113887634	113887634	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:113887634G>A	ENST00000375440.4	+	6	740	c.656G>A	c.(655-657)gGc>gAc	p.G219D	CUL4A_ENST00000451881.1_Missense_Mutation_p.G119D|CUL4A_ENST00000326335.4_Missense_Mutation_p.G119D|CUL4A_ENST00000375441.3_Missense_Mutation_p.G119D	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	219					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGCCTCCTGGGCATGCTGTCT	0.547																																							0											0													73.0	63.0	66.0					13																	113887634		2203	4300	6503	SO:0001583	missense	0			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.656G>A	13.37:g.113887634G>A	ENSP00000364589:p.Gly219Asp		A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.G219D	ENST00000375440.4	37	c.656	CCDS41908.1	13	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814758	0.70912	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.5	4.5	0.54988	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.205797	0.56097	D	0.000040	T	0.54695	0.1874	N	0.11673	0.155	0.52099	D	0.999949	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.53436	-0.8439	10	0.07482	T	0.82	-13.3105	17.5816	0.87970	0.0:0.0:1.0:0.0	.	219;219	Q13619;A8MSH7	CUL4A_HUMAN;.	D	119;119;119;219	ENSP00000364590:G119D;ENSP00000389118:G119D;ENSP00000322132:G119D;ENSP00000364589:G219D	ENSP00000322132:G119D	G	+	2	0	CUL4A	112935635	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.553000	0.98118	2.193000	0.70182	0.561000	0.74099	GGC	0	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.547	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	protein_coding	OTTHUMT00000045888.3	61	64	0	0.00	0	0	G	NM_003589	0	0		113887634	1	no_errors	ENST00000375440	ensembl	human	known	74_37	missense	29	46	27.5	18.97	11	11	SNP	1	A
GRK1	6011	genome.wustl.edu	37	13	114426118	114426118	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:114426118G>A	ENST00000335678.6	+	4	1289	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CAAGGGCTACGCAGGGACCCC	0.607																																							0											0													80.0	83.0	82.0					13																	114426118		692	1591	2283	SO:0001583	missense	0					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.1057G>A	13.37:g.114426118G>A	ENSP00000334876:p.Ala353Thr		Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.A353T	ENST00000335678.6	37	c.1057		13	.	.	.	.	.	.	.	.	.	.	g	18.02	3.529712	0.64860	.	.	ENSG00000185974	ENST00000335678	T	0.65549	-0.16	4.04	4.04	0.47022	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.78097	0.4230	.	.	.	0.53005	D	0.999962	D	0.89917	1.0	D	0.78314	0.991	T	0.81671	-0.0827	8	0.72032	D	0.01	.	13.8411	0.63439	0.0:0.0:1.0:0.0	.	353	Q15835	RK_HUMAN	T	353	ENSP00000334876:A353T	ENSP00000334876:A353T	A	+	1	0	GRK1	.	1.000000	0.71417	0.931000	0.37212	0.303000	0.27691	7.696000	0.84270	1.831000	0.53308	0.430000	0.28490	GCA	0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.607	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	protein_coding	OTTHUMT00000470655.1	23	70	0	0.00	0	0	G	NM_002929	0	0		114426118	1	no_errors	ENST00000335678	ensembl	human	known	74_37	missense	9	68	43.75	20.93	7	18	SNP	0.998	A
OR4N2	390429	genome.wustl.edu	37	14	20295852	20295852	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:20295852T>C	ENST00000315947.1	+	1	245	c.245T>C	c.(244-246)tTg>tCg	p.L82S	OR4N2_ENST00000568211.1_Missense_Mutation_p.L82S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCCCGGATGTTGGTGGACTTC	0.517																																							0											0													145.0	167.0	160.0					14																	20295852		2203	4300	6503	SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.245T>C	14.37:g.20295852T>C	ENSP00000319601:p.Leu82Ser		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L82S	ENST00000315947.1	37	c.245	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	18.82	3.704707	0.68615	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00428	7.44;7.44	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38663	N	0.001606	T	0.01592	0.0051	M	0.92367	3.3	0.30028	N	0.813731	D	0.89917	1.0	D	0.97110	1.0	T	0.01444	-1.1353	10	0.87932	D	0	-7.8708	11.7038	0.51585	0.0:0.0:0.0:1.0	.	82	Q8NGD1	OR4N2_HUMAN	S	82	ENSP00000452022:L82S;ENSP00000319601:L82S	ENSP00000319601:L82S	L	+	2	0	OR4N2	19365692	0.179000	0.23135	1.000000	0.80357	0.943000	0.58893	2.907000	0.48743	1.922000	0.55676	0.482000	0.46254	TTG	0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	protein_coding	OTTHUMT00000409821.2	136	59	0.73	0.00	1	0	T		0	0		20295852	1	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	104	36	16.8	16.28	21	7	SNP	0.977	C
METTL17	64745	genome.wustl.edu	37	14	21461287	21461287	+	Missense_Mutation	SNP	G	G	A	rs188874835		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:21461287G>A	ENST00000339374.6	+	6	772	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	METTL17_ENST00000556670.2_Missense_Mutation_p.R180Q|METTL17_ENST00000382985.4_Missense_Mutation_p.R180Q|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	180					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ATCCGGGCTCGAAATCCAGCA	0.413																																							0											0													179.0	165.0	170.0					14																	21461287		2203	4300	6503	SO:0001583	missense	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.539G>A	14.37:g.21461287G>A	ENSP00000343041:p.Arg180Gln		Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.R180Q	ENST00000339374.6	37	c.539	CCDS9562.1	14	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.74	1.434797	0.25813	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000553564;ENST00000554751;ENST00000555670	T;T;T;T	0.33654	1.4;1.4;1.98;1.4	5.29	3.48	0.39840	.	0.070231	0.56097	N	0.000035	T	0.41026	0.1141	M	0.90705	3.14	0.32601	N	0.525949	P;B;B	0.43287	0.802;0.32;0.324	B;B;B	0.34138	0.147;0.176;0.146	T	0.60616	-0.7228	10	0.56958	D	0.05	.	9.9583	0.41680	0.167:0.0:0.833:0.0	.	180;180;180	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	Q	180;180;98;98;98	ENSP00000343041:R180Q;ENSP00000372445:R180Q;ENSP00000451478:R98Q;ENSP00000451049:R98Q	ENSP00000343041:R180Q	R	+	2	0	METTL17	20531127	0.980000	0.34600	0.355000	0.25773	0.329000	0.28539	2.153000	0.42282	0.621000	0.30232	-0.216000	0.12614	CGA	0	pfam_Ribosomal_Rsm22_bac-type		0.413	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	protein_coding	OTTHUMT00000073804.4	50	264	0	0.00	0	0	G	NM_022734	rs188874835	G->A		21461287	1	no_errors	ENST00000382985	ensembl	human	known	74_37	missense	31	195	24.39	36.27	10	111	SNP	0.449	A
ZNF219	51222	genome.wustl.edu	37	14	21560534	21560534	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:21560534C>T	ENST00000360947.3	-	3	1333	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	ZNF219_ENST00000556101.1_5'Flank|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.G308S|ZNF219_ENST00000451119.2_Missense_Mutation_p.G308S	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	308					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AAGCAGCGGCCGCACACCGGA	0.632																																							0											0													18.0	16.0	17.0					14																	21560534		2189	4295	6484	SO:0001583	missense	0			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.922G>A	14.37:g.21560534C>T	ENSP00000354206:p.Gly308Ser		D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt	p.G308S	ENST00000360947.3	37	c.922	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940039	0.92526	.	.	ENSG00000165804	ENST00000360947;ENST00000555274;ENST00000451119;ENST00000421093	T;T;T	0.58358	0.34;0.34;0.34	4.44	4.44	0.53790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	L	0.39898	1.24	0.46260	D	0.998951	D	0.76494	0.999	D	0.70227	0.968	T	0.66563	-0.5892	10	0.72032	D	0.01	-13.2369	14.6196	0.68574	0.0:1.0:0.0:0.0	.	308	Q9P2Y4	ZN219_HUMAN	S	308;7;308;308	ENSP00000354206:G308S;ENSP00000388558:G308S;ENSP00000392401:G308S	ENSP00000354206:G308S	G	-	1	0	ZNF219	20630374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.772000	0.68889	2.303000	0.77524	0.467000	0.42956	GGC	0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	protein_coding	OTTHUMT00000073931.2	13	57	0	0.00	0	0	C		0	0		21560534	-1	no_errors	ENST00000360947	ensembl	human	known	74_37	missense	10	55	23.08	26.67	3	20	SNP	1	T
PRMT5	10419	genome.wustl.edu	37	14	23395919	23395919	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:23395919C>T	ENST00000324366.8	-	5	778	c.555G>A	c.(553-555)acG>acA	p.T185T	RP11-298I3.1_ENST00000548819.1_RNA|PRMT5_ENST00000553897.1_Silent_p.T141T|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000590290.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000538452.1_Silent_p.T79T|PRMT5_ENST00000216350.8_Silent_p.T124T|PRMT5_ENST00000397441.2_Silent_p.T168T|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	185	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACCACATCCACGTTTTCTCCT	0.537																																							0											0													284.0	193.0	224.0					14																	23395919		2203	4300	6503	SO:0001819	synonymous_variant	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.555G>A	14.37:g.23395919C>T			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.T185	ENST00000324366.8	37	c.555	CCDS9579.1	14																																																																																			0	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5		0.537	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	protein_coding	OTTHUMT00000071674.3	49	246	0	0.00	0	0	C		0	0		23395919	-1	no_errors	ENST00000324366	ensembl	human	known	74_37	silent	28	211	28.21	26.64	11	77	SNP	0.716	T
CMTM5	116173	genome.wustl.edu	37	14	23847585	23847585	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:23847585T>G	ENST00000339180.4	+	2	370	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.F52V|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.F52V|CMTM5_ENST00000342473.4_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	52	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTTCATCTGCTTCACGGCCTC	0.587																																							0											0													188.0	139.0	156.0					14																	23847585		2203	4300	6503	SO:0001583	missense	0			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.154T>G	14.37:g.23847585T>G	ENSP00000344819:p.Phe52Val		E9PH91|Q5PY48	Missense_Mutation	SNP	NULL	p.F52V	ENST00000339180.4	37	c.154		14	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068253	0.76301	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180	T;T;T	0.63096	2.02;-0.02;2.02	5.94	5.94	0.96194	Marvel (1);	0.000000	0.64402	D	0.000007	T	0.77558	0.4148	M	0.70595	2.14	0.42155	D	0.991571	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.994;0.986;0.996	T	0.78066	-0.2349	10	0.44086	T	0.13	-24.1799	14.3472	0.66675	0.0:0.0:0.0:1.0	.	52;52;52	Q96DZ9;E9PH91;Q96DZ9-2	CKLF5_HUMAN;.;.	V	52	ENSP00000352270:F52V;ENSP00000372259:F52V;ENSP00000344819:F52V	ENSP00000344819:F52V	F	+	1	0	CMTM5	22917425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.005000	0.40864	2.272000	0.75746	0.460000	0.39030	TTC	0	NULL		0.587	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	protein_coding	OTTHUMT00000133708.2	35	119	0	0.00	0	0	T		0	0		23847585	1	no_errors	ENST00000339180	ensembl	human	known	74_37	missense	16	82	15.79	32.79	3	40	SNP	1	G
PCK2	5106	genome.wustl.edu	37	14	24572069	24572069	+	Missense_Mutation	SNP	G	G	A	rs551184706		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:24572069G>A	ENST00000216780.4	+	8	1610	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Missense_Mutation_p.A314T|PCK2_ENST00000545054.2_Missense_Mutation_p.A314T|PCK2_ENST00000558096.1_Missense_Mutation_p.A314T|PCK2_ENST00000559250.1_Missense_Mutation_p.A460T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	448					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCCCATTGACGCCATCATCTT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		17777	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0													92.0	95.0	94.0					14																	24572069		2203	4300	6503	SO:0001583	missense	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1342G>A	14.37:g.24572069G>A	ENSP00000216780:p.Ala448Thr		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.A448T	ENST00000216780.4	37	c.1342	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.065861	0.93898	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.08008	3.14;3.14	5.57	4.68	0.58851	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.977;0.997;0.997	T	0.60167	-0.7316	10	0.87932	D	0	-15.0813	11.9933	0.53188	0.0842:0.0:0.9158:0.0	.	314;448;448	B4DW73;Q16822;Q6IB91	.;PCKGM_HUMAN;.	T	448;314	ENSP00000216780:A448T;ENSP00000441826:A314T	ENSP00000216780:A448T	A	+	1	0	PCK2	23641909	1.000000	0.71417	0.964000	0.40570	0.912000	0.54170	9.299000	0.96137	1.363000	0.46019	0.655000	0.94253	GCC	0	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP		0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	protein_coding	OTTHUMT00000071900.3	35	100	0	0.00	0	0	G	NM_001018073	rs551184706	G->A		24572069	1	no_errors	ENST00000216780	ensembl	human	known	74_37	missense	25	106	21.88	23.02	7	32	SNP	1	A
TGM1	7051	genome.wustl.edu	37	14	24729876	24729876	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:24729876C>T	ENST00000206765.6	-	4	660	c.537G>A	c.(535-537)acG>acA	p.T179T	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	179					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATCACGTGCGTGCCCTTGC	0.612																																							0											0													114.0	103.0	107.0					14																	24729876		2203	4300	6503	SO:0001819	synonymous_variant	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.537G>A	14.37:g.24729876C>T			B4DWR7|Q197M4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T179	ENST00000206765.6	37	c.537	CCDS9622.1	14																																																																																			0	pfam_Transglutaminase_N,superfamily_Ig_E-set		0.612	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	protein_coding	OTTHUMT00000073160.6	29	157	0	0.00	0	0	C	NM_000359	0	0		24729876	-1	no_errors	ENST00000206765	ensembl	human	known	74_37	silent	20	124	31.03	32.24	9	59	SNP	0.998	T
AKAP6	9472	genome.wustl.edu	37	14	33291302	33291302	+	Missense_Mutation	SNP	C	C	T	rs537245618		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:33291302C>T	ENST00000280979.4	+	13	4453	c.4283C>T	c.(4282-4284)tCg>tTg	p.S1428L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1428					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCTCTCAGTCGTCCATTTCA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		20674	0.0		0.0	False		,,,				2504	0.001				Melanoma(49;821 1200 7288 13647 42351)		0.9998,0.0001997											0													53.0	53.0	53.0					14																	33291302		2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4283C>T	14.37:g.33291302C>T	ENSP00000280979:p.Ser1428Leu		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S1428L	ENST00000280979.4	37	c.4283	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857442	0.17106	.	.	ENSG00000151320	ENST00000280979	T	0.05855	3.38	5.6	4.7	0.59300	.	0.828401	0.10827	N	0.629804	T	0.03871	0.0109	N	0.11560	0.145	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.42515	-0.9447	10	0.24483	T	0.36	0.6226	7.3337	0.26596	0.0:0.7881:0.0:0.2119	.	1428	Q13023	AKAP6_HUMAN	L	1428	ENSP00000280979:S1428L	ENSP00000280979:S1428L	S	+	2	0	AKAP6	32361053	0.977000	0.34250	0.997000	0.53966	0.984000	0.73092	1.375000	0.34295	1.321000	0.45227	0.563000	0.77884	TCG	0	NULL		0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	protein_coding	OTTHUMT00000276617.2	63	289	0	0.00	0	0	C	NM_004274	rs537245618	C->T		33291302	1	no_errors	ENST00000280979	ensembl	human	known	74_37	missense	45	272	26.23	24.86	16	90	SNP	0.991	T
TTC6	319089	genome.wustl.edu	37	14	38286843	38286843	+	Missense_Mutation	SNP	A	A	G	rs370029146		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:38286843A>G	ENST00000476979.1	+	8	939	c.652A>G	c.(652-654)Atg>Gtg	p.M218V	TTC6_ENST00000553443.1_Missense_Mutation_p.M1584V|TTC6_ENST00000267368.7_Missense_Mutation_p.M218V|TTC6_ENST00000382320.3_Missense_Mutation_p.M298V			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	218										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CGCCACTGCCATGTGCCATCA	0.413																																							0											0								A	VAL/MET	0,4406		0,0,2203	110.0	101.0	104.0		184	-3.5	0.2	14		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOC100652860	XM_003403521.1	21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	62/365	38286843	1,13005	2203	4300	6503	SO:0001583	missense	0			BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.652A>G	14.37:g.38286843A>G	ENSP00000417788:p.Met218Val		Q3SY88|Q96CE6	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M315V	ENST00000476979.1	37	c.943		14	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624821	0.28889	0.0	1.16E-4	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.12	-3.48	0.04739	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.986072	0.08293	N	0.968146	T	0.24005	0.0581	N	0.02334	-0.595	0.20638	N	0.999871	B;B	0.16802	0.019;0.0	B;B	0.20955	0.032;0.001	T	0.16928	-1.0386	9	0.17369	T	0.5	-0.1023	3.7065	0.08403	0.4308:0.0:0.3075:0.2617	.	1584;218	G3V3A5;Q86TZ1	.;TTC6_HUMAN	V	1584;218;218;298	ENSP00000451131:M1584V;ENSP00000417788:M218V;ENSP00000267368:M218V;ENSP00000371757:M298V	ENSP00000267368:M218V	M	+	1	0	TTC6	37356594	0.632000	0.27172	0.194000	0.23346	0.680000	0.39746	0.706000	0.25690	-0.854000	0.04131	-0.290000	0.09829	ATG	0	smart_TPR_repeat,pfscan_TPR-contain_dom		0.413	TTC6-002	KNOWN	basic	protein_coding	TTC6	protein_coding	OTTHUMT00000348621.2	40	144	0	0.00	0	0	A	XM_002343299	rs370029146	A->G		38286843	1	no_errors	ENST00000478811	ensembl	human	known	74_37	missense	26	140	35	29.65	14	59	SNP	0.035	G
MGAT2	4247	genome.wustl.edu	37	14	50088616	50088616	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:50088616C>T	ENST00000305386.2	+	1	1128	c.630C>T	c.(628-630)tgC>tgT	p.C210C	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	210					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AATTGGGGTGCATCAATGCTG	0.488																																							0											0													109.0	106.0	107.0					14																	50088616		2203	4300	6503	SO:0001819	synonymous_variant	0			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.630C>T	14.37:g.50088616C>T			B3KPC5|B3KQM0	Silent	SNP	pfam_GlcNAc_II	p.C210	ENST00000305386.2	37	c.630	CCDS9690.1	14																																																																																			0	pfam_GlcNAc_II		0.488	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT2	protein_coding	OTTHUMT00000276807.1	51	201	0	0.00	0	0	C	NM_002408	0	0		50088616	1	no_errors	ENST00000305386	ensembl	human	known	74_37	silent	32	168	34.69	33.07	17	83	SNP	1	T
C14orf182	283551	genome.wustl.edu	37	14	50472274	50472274	+	5'UTR	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:50472274G>A	ENST00000529902.1	-	0	963				C14orf182_ENST00000399206.1_Intron			A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182											large_intestine(2)|urinary_tract(1)	3						GGTCCTGGCAGAGACAGAACA	0.512																																							0											0													84.0	92.0	89.0					14																	50472274		2016	4189	6205	SO:0001623	5_prime_UTR_variant	0			AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000529902.1:c.-3316C>T	14.37:g.50472274G>A			A8MYX4	RNA	SNP	0	NULL	ENST00000529902.1	37	NULL		14																																																																																			0	0		0.512	C14orf182-004	KNOWN	basic	processed_transcript	C14orf182	protein_coding	OTTHUMT00000395721.1	27	160	0	0.00	0	0	G	NM_001012706	0	0		50472274	-1	no_errors	ENST00000529902	ensembl	human	known	74_37	rna	18	139	29.63	22.78	8	41	SNP	0.001	A
SYNE2	23224	genome.wustl.edu	37	14	64468724	64468724	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:64468724G>A	ENST00000344113.4	+	29	3923	c.3711G>A	c.(3709-3711)tcG>tcA	p.S1237S	SYNE2_ENST00000358025.3_Silent_p.S1237S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.S1237S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1237					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGTGGCTCGGACCTGCCTC	0.458																																							0											0													109.0	114.0	112.0					14																	64468724		1929	4128	6057	SO:0001819	synonymous_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3711G>A	14.37:g.64468724G>A			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1237	ENST00000344113.4	37	c.3711	CCDS41963.1	14																																																																																			0	NULL		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	51	154	0	0.00	0	0	G	NM_182914	0	0		64468724	1	no_errors	ENST00000358025	ensembl	human	known	74_37	silent	26	149	25.71	25.50	9	51	SNP	0.001	A
GALNT16	57452	genome.wustl.edu	37	14	69806306	69806306	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:69806306G>A	ENST00000337827.4	+	11	1484	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	GALNT16_ENST00000553669.1_Missense_Mutation_p.R386Q|GALNT16_ENST00000448469.3_Missense_Mutation_p.R386Q	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	386					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TATGAGGCCCGGCCCTCGGCC	0.537																																							0											0													77.0	77.0	77.0					14																	69806306		2203	4300	6503	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1157G>A	14.37:g.69806306G>A	ENSP00000336729:p.Arg386Gln		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R386Q	ENST00000337827.4	37	c.1157	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880900	0.72294	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469;ENST00000553669	T;T;T	0.64438	-0.1;-0.1;-0.1	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.66497	0.901;0.944	T	0.78486	-0.2185	10	0.29301	T	0.29	.	18.6071	0.91271	0.0:0.0:1.0:0.0	.	386;386	Q8N428;Q58A55	GLTL1_HUMAN;.	Q	386;12;386;386	ENSP00000336729:R386Q;ENSP00000402970:R386Q;ENSP00000451200:R386Q	ENSP00000336729:R386Q	R	+	2	0	GALNTL1	68876059	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.619000	0.83057	2.399000	0.81585	0.462000	0.41574	CGG	0	NULL		0.537	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	protein_coding	OTTHUMT00000412434.1	39	119	0	0.00	0	0	G	NM_001168368	0	0		69806306	1	no_errors	ENST00000337827	ensembl	human	known	74_37	missense	21	103	16	29.25	4	43	SNP	1	A
ADAM21P1	145241	genome.wustl.edu	37	14	70713487	70713487	+	RNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:70713487C>T	ENST00000530196.1	-	0	1031					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TTTTTATGAACGTATGTGCAG	0.378																																							0											0																																												0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713487C>T				RNA	SNP	0	NULL	ENST00000530196.1	37	NULL		14																																																																																			0	0		0.378	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	pseudogene	OTTHUMT00000390451.1	79	182	1.25	0.00	1	0	C	NG_002467	0	0		70713487	-1	no_errors	ENST00000530196	ensembl	human	known	74_37	rna	38	143	28.3	34.10	15	74	SNP	0.003	T
MLH3	27030	genome.wustl.edu	37	14	75483880	75483880	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:75483880G>A	ENST00000556740.1	-	12	4302	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	MLH3_ENST00000355774.2_Missense_Mutation_p.R1423C|MLH3_ENST00000238662.7_Missense_Mutation_p.R1399C|MLH3_ENST00000380968.2_Missense_Mutation_p.R361C|MLH3_ENST00000556257.1_Missense_Mutation_p.R1245C			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1423					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCCATTTTGCGAAGTTTAGTG	0.478								Mismatch excision repair (MMR)																															0											0													111.0	105.0	107.0					14																	75483880		2203	4300	6503	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.4267C>T	14.37:g.75483880G>A	ENSP00000452316:p.Arg1423Cys		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C	p.R1423C	ENST00000556740.1	37	c.4267	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150176	0.37923	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	D;T;D;D;D	0.83250	-1.7;0.49;-1.52;-1.58;-1.7	5.66	3.82	0.43975	.	0.199848	0.50627	N	0.000106	T	0.72969	0.3527	L	0.41710	1.295	0.80722	D	1	B;B	0.21753	0.046;0.06	B;B	0.13407	0.009;0.007	T	0.69281	-0.5186	10	0.49607	T	0.09	-0.4582	6.678	0.23106	0.1523:0.0:0.7061:0.1416	.	1399;1423	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	C	1423;361;1399;1245;1423	ENSP00000348020:R1423C;ENSP00000370355:R361C;ENSP00000238662:R1399C;ENSP00000451540:R1245C;ENSP00000452316:R1423C	ENSP00000238662:R1399C	R	-	1	0	MLH3	74553633	0.982000	0.34865	0.987000	0.45799	0.628000	0.37860	0.381000	0.20619	1.390000	0.46547	0.655000	0.94253	CGC	0	NULL		0.478	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	protein_coding	OTTHUMT00000415006.1	60	245	0	0.41	0	1	G	NM_014381	0	0		75483880	-1	no_errors	ENST00000355774	ensembl	human	known	74_37	missense	38	209	40.62	28.18	26	82	SNP	0.989	A
GALC	2581	genome.wustl.edu	37	14	88411976	88411976	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:88411976G>A	ENST00000261304.2	-	14	1697	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	GALC_ENST00000393569.2_Missense_Mutation_p.R505C|GALC_ENST00000544807.2_Missense_Mutation_p.R475C|GALC_ENST00000393568.4_Missense_Mutation_p.R508C	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). {ECO:0000269|PubMed:10234611}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAACTTGGCGTAGCGTGAAG	0.408																																							0											0			GRCh37	CM970566	GALC	M							123.0	119.0	120.0					14																	88411976		1884	4095	5979	SO:0001583	missense	0			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1591C>T	14.37:g.88411976G>A	ENSP00000261304:p.Arg531Cys		B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59	p.R531C	ENST00000261304.2	37	c.1591	CCDS9878.2	14	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571353	0.45798	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.5	4.6	0.57074	.	0.048176	0.85682	D	0.000000	D	0.97779	0.9271	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.98883	1.0770	10	0.87932	D	0	-13.106	16.56	0.84537	0.0:0.1308:0.8692:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	C	531;475;505;320;508	ENSP00000261304:R531C;ENSP00000437513:R475C;ENSP00000377199:R505C;ENSP00000377198:R508C	ENSP00000261304:R531C	R	-	1	0	GALC	87481729	1.000000	0.71417	0.762000	0.31397	0.009000	0.06853	6.409000	0.73289	1.441000	0.47550	-0.291000	0.09656	CGC	0	pfam_Glyco_hydro_59		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	protein_coding	OTTHUMT00000071559.2	110	200	0	0.00	0	0	G		0	0		88411976	-1	no_errors	ENST00000261304	ensembl	human	known	74_37	missense	53	146	37.65	35.11	32	79	SNP	0.997	A
WDR25	79446	genome.wustl.edu	37	14	100848025	100848025	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:100848025G>A	ENST00000335290.6	+	2	990	c.764G>A	c.(763-765)tGt>tAt	p.C255Y	WDR25_ENST00000554175.1_Missense_Mutation_p.C255Y|WDR25_ENST00000402312.3_Missense_Mutation_p.C255Y|WDR25_ENST00000554998.1_Missense_Mutation_p.C255Y|WDR25_ENST00000542471.2_5'Flank	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	255										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ATTCAGTGGTGTCCAGTCCTT	0.448																																							0											0													54.0	52.0	53.0					14																	100848025		2203	4300	6503	SO:0001583	missense	0			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.764G>A	14.37:g.100848025G>A	ENSP00000334148:p.Cys255Tyr		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C255Y	ENST00000335290.6	37	c.764	CCDS32157.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970925	0.74246	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.60040	5.03;5.03;5.03;0.22	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.221359	0.38605	N	0.001621	T	0.68842	0.3045	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62859	-0.6765	10	0.26408	T	0.33	-22.834	16.8544	0.86002	0.0:0.0:1.0:0.0	.	255	Q64LD2	WDR25_HUMAN	Y	255	ENSP00000450661:C255Y;ENSP00000385540:C255Y;ENSP00000334148:C255Y;ENSP00000450727:C255Y	ENSP00000334148:C255Y	C	+	2	0	WDR25	99917778	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	7.275000	0.78548	2.711000	0.92665	0.655000	0.94253	TGT	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.448	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDR25	protein_coding	OTTHUMT00000414312.1	63	195	0	0.00	0	0	G	NM_024515	0	0		100848025	1	no_errors	ENST00000335290	ensembl	human	known	74_37	missense	37	167	24.49	24.77	12	55	SNP	1	A
AHNAK2	113146	genome.wustl.edu	37	14	105419322	105419322	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:105419322G>A	ENST00000333244.5	-	7	2585	c.2466C>T	c.(2464-2466)gcC>gcT	p.A822A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	822						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCTTGTCGGCCAGGGACA	0.607																																							0											0													207.0	229.0	222.0					14																	105419322		1938	4138	6076	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2466C>T	14.37:g.105419322G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A822	ENST00000333244.5	37	c.2466	CCDS45177.1	14																																																																																			0	NULL		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	protein_coding	OTTHUMT00000410300.1	94	2	0	0.00	0	0	G	NM_138420	0	0		105419322	-1	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	48	4	18.64	33.33	11	2	SNP	0	A
HERC2	8924	genome.wustl.edu	37	15	28441399	28441399	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:28441399T>A	ENST00000261609.7	-	52	8330	c.8222A>T	c.(8221-8223)cAc>cTc	p.H2741L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTGGTATTGTGTTTTTTGGT	0.353																																							0											0													22.0	21.0	21.0					15																	28441399		2163	4250	6413	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8222A>T	15.37:g.28441399T>A	ENSP00000261609:p.His2741Leu			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.H2741L	ENST00000261609.7	37	c.8222	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959018	0.74016	.	.	ENSG00000128731	ENST00000261609	D	0.91407	-2.84	5.3	5.3	0.74995	Zinc finger, ZZ-type (3);Galactose-binding domain-like (1);	0.057143	0.64402	D	0.000004	D	0.95446	0.8521	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.995	D	0.94488	0.7699	10	0.17369	T	0.5	.	15.5337	0.75986	0.0:0.0:0.0:1.0	.	208;2741	A8KAQ8;O95714	.;HERC2_HUMAN	L	2741	ENSP00000261609:H2741L	ENSP00000261609:H2741L	H	-	2	0	HERC2	26114994	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.140000	0.66376	0.397000	0.26171	CAC	0	pfam_Znf_ZZ,superfamily_Galactose-bd-like,smart_Znf_ZZ,pfscan_Znf_ZZ		0.353	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	233	126	0	0.00	0	0	T	NM_004667	0	0		28441399	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	131	95	31.05	34.48	59	50	SNP	1	A
GOLGA8M	653720	genome.wustl.edu	37	15	28986394	28986394	+	5'Flank	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:28986394C>T	ENST00000563213.1	-	0	0				RP11-578F21.6_ENST00000568033.1_lincRNA					golgin A8 family, member M																		TAGGGCTATGCGAGAAGTTGC	0.318																																							0											0																																										SO:0001631	upstream_gene_variant	0				CCDS61572.1	15q13.1	2014-03-21			ENSG00000188626	ENSG00000188626			44404	protein-coding gene	gene with protein product							Standard	NM_001282468		Approved			H3BSY2	OTTHUMG00000176338		15.37:g.28986394C>T	Exception_encountered			RNA	SNP	0	NULL	ENST00000563213.1	37	NULL		15																																																																																			0	0		0.318	GOLGA8M-002	KNOWN	basic	processed_transcript	WHAMMP2	protein_coding	OTTHUMT00000431778.1	313	116	0	1.68	0	2	C		0	0		28986394	1	no_errors	ENST00000508764	ensembl	human	putative	74_37	rna	162	89	24.19	31.01	52	40	SNP	1	T
FAM189A1	23359	genome.wustl.edu	37	15	29429340	29429340	+	Missense_Mutation	SNP	C	C	T	rs556713434		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:29429340C>T	ENST00000261275.4	-	6	687	c.688G>A	c.(688-690)Gtt>Att	p.V230I		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	230						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						TGGTGGAGAACGGTGCCGTGA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16565	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													81.0	89.0	86.0					15																	29429340		692	1591	2283	SO:0001583	missense	0				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.688G>A	15.37:g.29429340C>T	ENSP00000261275:p.Val230Ile		A0PK09	Missense_Mutation	SNP	pfam_CD20-like	p.V230I	ENST00000261275.4	37	c.688	CCDS45198.1	15	.	.	.	.	.	.	.	.	.	.	C	1.304	-0.604138	0.03717	.	.	ENSG00000104059	ENST00000261275	T	0.03181	4.02	5.37	-2.32	0.06745	.	0.482604	0.22990	N	0.053214	T	0.01870	0.0059	N	0.12569	0.235	0.23445	N	0.997664	B	0.24768	0.111	B	0.14578	0.011	T	0.48139	-0.9061	10	0.13108	T	0.6	-15.5585	11.6993	0.51560	0.0:0.3226:0.0:0.6774	.	230	O60320	F1891_HUMAN	I	230	ENSP00000261275:V230I	ENSP00000261275:V230I	V	-	1	0	FAM189A1	27216632	0.395000	0.25254	0.074000	0.20217	0.555000	0.35460	0.633000	0.24598	-0.358000	0.08162	-0.251000	0.11542	GTT	0	NULL		0.582	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	protein_coding	OTTHUMT00000417254.1	36	74	0	0.00	0	0	C	NM_015307	rs556713434	C->T		29429340	-1	no_errors	ENST00000261275	ensembl	human	known	74_37	missense	26	55	16.13	36.78	5	32	SNP	0.626	T
FMN1	342184	genome.wustl.edu	37	15	33357216	33357216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:33357216C>T	ENST00000559047.1	-	3	2102	c.2103G>A	c.(2101-2103)tgG>tgA	p.W701*	FMN1_ENST00000558197.1_Nonsense_Mutation_p.W478*|FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Nonsense_Mutation_p.W478*			Q68DA7	FMN1_HUMAN	formin 1	701	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTGGGGGTGGCCAGACAGCTT	0.493																																							0											0													205.0	201.0	202.0					15																	33357216		1908	4121	6029	SO:0001587	stop_gained	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2103G>A	15.37:g.33357216C>T	ENSP00000454047:p.Trp701*		Q3B7I6|Q3ZAR4|Q6ZSY1	Nonsense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.W478*	ENST00000559047.1	37	c.1434		15	.	.	.	.	.	.	.	.	.	.	C	39	7.357126	0.98235	.	.	ENSG00000248905	ENST00000334528	.	.	.	6.04	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7629	0.85517	0.1302:0.8698:0.0:0.0	.	.	.	.	X	478	.	ENSP00000333950:W478X	W	-	3	0	FMN1	31144508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.805000	0.75191	1.554000	0.49487	0.561000	0.74099	TGG	0	prints_Formin_Cappuccino_subfam		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	protein_coding	OTTHUMT00000417414.1	90	192	0	0.00	0	0	C	NM_001103184	0	0		33357216	-1	no_errors	ENST00000334528	ensembl	human	known	74_37	nonsense	43	169	39.44	32.40	28	81	SNP	1	T
BAHD1	22893	genome.wustl.edu	37	15	40754411	40754411	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:40754411C>A	ENST00000416165.1	+	3	1804	c.1733C>A	c.(1732-1734)cCa>cAa	p.P578Q	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.P578Q|BAHD1_ENST00000561234.1_Missense_Mutation_p.P577Q	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	578	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTCCAGCGCCCACGCCCTCGC	0.642																																							0											0													55.0	62.0	60.0					15																	40754411		2186	4264	6450	SO:0001583	missense	0			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1733C>A	15.37:g.40754411C>A	ENSP00000396976:p.Pro578Gln		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P578Q	ENST00000416165.1	37	c.1733	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463834	0.43736	.	.	ENSG00000140320	ENST00000416165	T	0.18960	2.18	4.35	4.35	0.52113	.	0.000000	0.48286	D	0.000200	T	0.13756	0.0333	N	0.08118	0	0.29582	N	0.849111	P;P;P	0.50528	0.936;0.895;0.936	P;B;P	0.47645	0.553;0.351;0.553	T	0.03969	-1.0988	10	0.22706	T	0.39	-10.2038	12.6799	0.56916	0.0:1.0:0.0:0.0	.	578;578;577	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	Q	578	ENSP00000396976:P578Q	ENSP00000396976:P578Q	P	+	2	0	BAHD1	38541703	0.910000	0.30920	0.994000	0.49952	0.613000	0.37349	3.013000	0.49582	2.728000	0.93425	0.585000	0.79938	CCA	0	NULL		0.642	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	protein_coding	OTTHUMT00000252248.1	27	46	3.57	0.00	1	0	C	NM_014952	0	0		40754411	1	no_errors	ENST00000416165	ensembl	human	known	74_37	missense	12	37	42.86	25.49	9	13	SNP	1	A
RTF1	23168	genome.wustl.edu	37	15	41768665	41768665	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:41768665T>C	ENST00000389629.4	+	12	1516	c.1504T>C	c.(1504-1506)Ttc>Ctc	p.F502L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	502					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAAGAAAGGTTCAGAAAAGC	0.433																																							0											0													132.0	122.0	126.0					15																	41768665		2203	4300	6503	SO:0001583	missense	0			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1504T>C	15.37:g.41768665T>C	ENSP00000374280:p.Phe502Leu		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.F502L	ENST00000389629.4	37	c.1504	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	T	32	5.139745	0.94560	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.76727	2.345	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.71642	-0.4531	9	0.14252	T	0.57	-10.7156	15.8085	0.78534	0.0:0.0:0.0:1.0	.	502	Q92541	RTF1_HUMAN	L	502	.	ENSP00000374280:F502L	F	+	1	0	RTF1	39555957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.825000	0.86693	2.134000	0.65973	0.533000	0.62120	TTC	0	NULL		0.433	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	protein_coding	OTTHUMT00000258111.1	112	268	0	0.00	0	0	T	NM_015138	0	0		41768665	1	no_errors	ENST00000389629	ensembl	human	known	74_37	missense	65	205	26.14	27.05	23	76	SNP	1	C
ZNF106	64397	genome.wustl.edu	37	15	42716969	42716969	+	Intron	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:42716969C>T	ENST00000263805.4	-	13	5448				ZNF106_ENST00000565660.1_5'UTR|ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron|RNU6-188P_ENST00000364207.1_RNA	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106						insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										tgagccacctcgcctggccTC	0.537																																							0											0																																										SO:0001627	intron_variant	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5121+62G>A	15.37:g.42716969C>T			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	RNA	SNP	0	NULL	ENST00000263805.4	37	NULL	CCDS32208.1	15																																																																																			0	0		0.537	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF106	protein_coding	OTTHUMT00000422587.1	19	108	0	0.00	0	0	C	NM_022473	0	0		42716969	-1	no_errors	ENST00000565660	ensembl	human	known	74_37	rna	16	85	30.43	35.61	7	47	SNP	0	T
TP53BP1	7158	genome.wustl.edu	37	15	43714075	43714075	+	Silent	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:43714075G>T	ENST00000263801.3	-	19	4315	c.4063C>A	c.(4063-4065)Cga>Aga	p.R1355R	TP53BP1_ENST00000382044.4_Silent_p.R1360R|TP53BP1_ENST00000450115.2_Silent_p.R1360R|TP53BP1_ENST00000382039.3_Silent_p.R1360R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1355					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGCCTCCTCGGGAGCTGGGT	0.567								Other conserved DNA damage response genes																															0											0													61.0	64.0	63.0					15																	43714075		2201	4298	6499	SO:0001819	synonymous_variant	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4063C>A	15.37:g.43714075G>T			F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.R1360	ENST00000263801.3	37	c.4078	CCDS10096.1	15																																																																																			0	NULL		0.567	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	protein_coding	OTTHUMT00000132897.3	27	214	0	0.93	0	2	G		0	0		43714075	-1	no_errors	ENST00000382044	ensembl	human	known	74_37	silent	19	177	20.83	24.58	5	58	SNP	1	T
HYPK	25764	genome.wustl.edu	37	15	44093946	44093946	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:44093946G>A	ENST00000406925.1	+	5	4443	c.332G>A	c.(331-333)cGc>cAc	p.R111H	SERF2_ENST00000594896.1_Missense_Mutation_p.R157H|RP11-296A16.1_ENST00000417761.2_5'Flank|HYPK_ENST00000458412.1_3'UTR|SERINC4_ENST00000299969.6_5'Flank|SERINC4_ENST00000249714.3_5'Flank|HYPK_ENST00000442995.2_Missense_Mutation_p.R111H|SERF2_ENST00000600633.1_Missense_Mutation_p.R111H|SERINC4_ENST00000319327.6_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	111						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GCAGCAGAACGCAGTTTGCGG	0.443																																							0											0													97.0	90.0	93.0					15																	44093946		2198	4298	6496	SO:0001583	missense	0			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.332G>A	15.37:g.44093946G>A	ENSP00000384474:p.Arg111His		C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	NULL	p.R157H	ENST00000406925.1	37	c.470	CCDS10104.1	15	.	.	.	.	.	.	.	.	.	.	G	38	6.639933	0.97726	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.53640	0.61;0.61	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.63113	0.911	T	0.71048	-0.4705	10	0.72032	D	0.01	-14.5118	19.2408	0.93881	0.0:0.0:1.0:0.0	.	111	Q9NX55	HYPK_HUMAN	H	111	ENSP00000384474:R111H;ENSP00000401155:R111H	ENSP00000384474:R111H	R	+	2	0	C15orf63	41881238	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	CGC	0	NULL		0.443	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SERF2	protein_coding	OTTHUMT00000133876.3	65	145	0	0.00	0	0	G	NM_016400	0	0		44093946	1	no_errors	ENST00000594896	ensembl	human	known	74_37	missense	33	126	32.65	31.52	16	58	SNP	1	A
DUOX1	53905	genome.wustl.edu	37	15	45442869	45442869	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:45442869G>A	ENST00000321429.4	+	23	3265	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R953Q|DUOX1_ENST00000561166.1_Missense_Mutation_p.R599Q|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	953					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCTGCCGGCGAGCCTCCTAC	0.607																																							0											0													57.0	52.0	54.0					15																	45442869		2198	4298	6496	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2858G>A	15.37:g.45442869G>A	ENSP00000317997:p.Arg953Gln		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.R953Q	ENST00000321429.4	37	c.2858	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338456	0.81911	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85484	-1.99;-1.99	5.63	5.63	0.86233	.	0.288605	0.31589	N	0.007382	D	0.89008	0.6593	M	0.62723	1.935	0.41587	D	0.98877	D;D	0.64830	0.994;0.963	P;P	0.58077	0.832;0.552	D	0.86170	0.1599	10	0.21014	T	0.42	-9.0895	17.1598	0.86801	0.0:0.0:1.0:0.0	.	86;953	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	Q	953	ENSP00000317997:R953Q;ENSP00000373689:R953Q	ENSP00000317997:R953Q	R	+	2	0	DUOX1	43230161	0.999000	0.42202	0.967000	0.41034	0.958000	0.62258	4.859000	0.62954	2.646000	0.89796	0.561000	0.74099	CGA	0	NULL		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	26	90	0	0.00	0	0	G	NM_017434	0	0		45442869	1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	14	44	12.5	34.33	2	23	SNP	0.987	A
CGNL1	84952	genome.wustl.edu	37	15	57809086	57809086	+	Missense_Mutation	SNP	A	A	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:57809086A>C	ENST00000281282.5	+	9	2590	c.2512A>C	c.(2512-2514)Agc>Cgc	p.S838R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	838						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGGAAGAAGCGAAGAGCT	0.557																																							0											0													68.0	62.0	64.0					15																	57809086		2192	4292	6484	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2512A>C	15.37:g.57809086A>C	ENSP00000281282:p.Ser838Arg		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.S838R	ENST00000281282.5	37	c.2512	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408992	0.25378	.	.	ENSG00000128849	ENST00000281282	T	0.77877	-1.13	4.68	-2.08	0.07254	.	0.896444	0.09439	N	0.802022	T	0.55353	0.1915	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.43893	-0.9363	10	0.72032	D	0.01	-0.7137	7.1213	0.25446	0.2189:0.4233:0.3578:0.0	.	838	Q0VF96	CGNL1_HUMAN	R	838	ENSP00000281282:S838R	ENSP00000281282:S838R	S	+	1	0	CGNL1	55596378	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.585000	0.05794	-0.459000	0.07013	0.460000	0.39030	AGC	0	prints_Tropomyosin		0.557	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	protein_coding	OTTHUMT00000255482.2	46	81	0	0.00	0	0	A	NM_032866	0	0		57809086	1	no_errors	ENST00000281282	ensembl	human	known	74_37	missense	18	58	35.71	24.68	10	19	SNP	0	C
ICE2	79664	genome.wustl.edu	37	15	60745781	60745781	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:60745781G>A	ENST00000561114.1	-	9	1308	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCCTTAGGGGAAAAAAAAAG	0.338																																							0											0													51.0	51.0	51.0					15																	60745781		2203	4296	6499	SO:0001819	synonymous_variant	0																														ENST00000561114.1:c.1146C>T	15.37:g.60745781G>A				Silent	SNP	NULL	p.F382	ENST00000561114.1	37	c.1146		15																																																																																			0	NULL		0.338	NARG2-004	PUTATIVE	basic	protein_coding	NARG2	protein_coding	OTTHUMT00000416605.1	63	293	0	0.00	0	0	G		0	0		60745781	-1	no_errors	ENST00000561114	ensembl	human	putative	74_37	silent	27	246	23.68	25.83	9	86	SNP	0	A
VPS13C	54832	genome.wustl.edu	37	15	62300907	62300907	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:62300907C>T	ENST00000261517.5	-	14	1138	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	VPS13C_ENST00000395896.4_Silent_p.A355A|VPS13C_ENST00000249837.3_Silent_p.A312A|VPS13C_ENST00000395898.3_Silent_p.A312A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTATAAGGCGCATTCCTAA	0.289																																							0											0													110.0	84.0	93.0					15																	62300907		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1065G>A	15.37:g.62300907C>T				Silent	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A355	ENST00000261517.5	37	c.1065	CCDS32257.1	15																																																																																			0	NULL		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	123	301	0	0.00	0	0	C	NM_017684	0	0		62300907	-1	no_errors	ENST00000261517	ensembl	human	known	74_37	silent	47	254	32.86	28.77	23	103	SNP	0.519	T
HERC1	8925	genome.wustl.edu	37	15	63967237	63967237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:63967237G>A	ENST00000443617.2	-	38	7237	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2384					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTCGGAATCGCGCCACATCA	0.463																																							0											0													106.0	102.0	104.0					15																	63967237		2038	4199	6237	SO:0001587	stop_gained	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7150C>T	15.37:g.63967237G>A	ENSP00000390158:p.Arg2384*		Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R2384*	ENST00000443617.2	37	c.7150	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	47	13.743661	0.99760	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.51	4.53	0.55603	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4547	0.75302	0.0:0.0:0.8145:0.1855	.	.	.	.	X	2384	.	ENSP00000390158:R2384X	R	-	1	2	HERC1	61754290	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.792000	0.47837	2.589000	0.87451	0.650000	0.86243	CGA	0	NULL		0.463	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	42	160	0	0.00	0	0	G	NM_003922	0	0		63967237	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	nonsense	40	108	21.57	32.92	11	53	SNP	0.976	A
SNX1	6642	genome.wustl.edu	37	15	64424072	64424072	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:64424072G>A	ENST00000559844.1	+	11	1216	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	SNX1_ENST00000261889.5_Missense_Mutation_p.R401H|SNX1_ENST00000353874.4_Missense_Mutation_p.R401H|SNX1_ENST00000561026.1_Missense_Mutation_p.R336H|SNX1_ENST00000560829.1_Missense_Mutation_p.R183H|SNX1_ENST00000559339.1_3'UTR			Q13596	SNX1_HUMAN	sorting nexin 1	401	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GACTACATTCGCCTCCTGGCC	0.498																																							0											0													115.0	106.0	109.0					15																	64424072		2203	4300	6503	SO:0001583	missense	0			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1202G>A	15.37:g.64424072G>A	ENSP00000453785:p.Arg401His		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R401H	ENST00000559844.1	37	c.1202	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889599	0.91889	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.49720	0.77	5.2	5.2	0.72013	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.993;0.995;0.993;0.993;0.996;0.987;0.993	T	0.76937	-0.2774	10	0.48119	T	0.1	-22.0774	17.4583	0.87613	0.0:0.0:1.0:0.0	.	401;311;401;401;336;401;401	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	H	401;401;336	ENSP00000326668:R401H	ENSP00000261889:R336H	R	+	2	0	SNX1	62211125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.625000	0.98406	2.693000	0.91896	0.561000	0.74099	CGC	0	pfam_Vps5_C		0.498	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	protein_coding	OTTHUMT00000418559.1	39	190	0	0.00	0	0	G	NM_003099	0	0		64424072	1	no_errors	ENST00000559844	ensembl	human	known	74_37	missense	19	146	36.67	32.09	11	69	SNP	1	A
TIPIN	54962	genome.wustl.edu	37	15	66645207	66645207	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:66645207G>T	ENST00000261881.4	-	2	164	c.79C>A	c.(79-81)Cca>Aca	p.P27T	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	27					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						GCTGGAGGTGGGAAAGGAGGA	0.463																																							0											0													108.0	97.0	101.0					15																	66645207		2201	4299	6500	SO:0001583	missense	0			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.79C>A	15.37:g.66645207G>T	ENSP00000261881:p.Pro27Thr		B2CW64|Q9NWZ6	Missense_Mutation	SNP	pfam_Swi3	p.P27T	ENST00000261881.4	37	c.79	CCDS10215.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188559	0.78789	.	.	ENSG00000075131	ENST00000261881	T	0.14144	2.53	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	P	0.62435	0.902	T	0.05338	-1.0891	10	0.66056	D	0.02	-9.8553	16.5875	0.84731	0.0:0.0:1.0:0.0	.	27	Q9BVW5	TIPIN_HUMAN	T	27	ENSP00000261881:P27T	ENSP00000261881:P27T	P	-	1	0	TIPIN	64432261	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.609000	0.82925	2.306000	0.77630	0.462000	0.41574	CCA	0	NULL		0.463	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIPIN	protein_coding	OTTHUMT00000256897.2	84	47	0	0.00	0	0	G	NM_017858	0	0		66645207	-1	no_errors	ENST00000261881	ensembl	human	known	74_37	missense	44	50	29.03	33.33	18	25	SNP	1	T
ITGA11	22801	genome.wustl.edu	37	15	68612623	68612623	+	Missense_Mutation	SNP	G	G	A	rs200675726		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:68612623G>A	ENST00000315757.7	-	20	2602	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V	ITGA11_ENST00000423218.2_Missense_Mutation_p.A839V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	839					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGCCTCCACCGCCACTCGCTG	0.582																																							0											0													41.0	46.0	44.0					15																	68612623		2102	4237	6339	SO:0001583	missense	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2516C>T	15.37:g.68612623G>A	ENSP00000327290:p.Ala839Val		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A839V	ENST00000315757.7	37	c.2516	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	G	2.539	-0.306791	0.05458	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.42513	0.97;0.97	5.41	5.41	0.78517	Integrin alpha-2 (1);	0.154150	0.64402	D	0.000020	T	0.29850	0.0746	N	0.21373	0.66	0.43421	D	0.995576	P;P	0.36483	0.555;0.549	B;B	0.33890	0.172;0.065	T	0.06427	-1.0827	10	0.15499	T	0.54	.	18.1723	0.89749	0.0:0.0:1.0:0.0	.	839;839	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	839;839;474	ENSP00000327290:A839V;ENSP00000403392:A839V	ENSP00000327290:A839V	A	-	2	0	ITGA11	66399677	1.000000	0.71417	0.971000	0.41717	0.244000	0.25665	5.387000	0.66243	2.541000	0.85698	0.561000	0.74099	GCG	0	pfam_Integrin_alpha-2		0.582	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	protein_coding		19	68	0	0.00	0	0	G	NM_012211	rs200675726	G->A		68612623	-1	no_errors	ENST00000315757	ensembl	human	known	74_37	missense	8	58	33.33	28.40	4	23	SNP	0.988	A
SCAMP2	10066	genome.wustl.edu	37	15	75137863	75137863	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75137863G>A	ENST00000268099.9	-	8	915	c.806C>T	c.(805-807)gCt>gTt	p.A269V	ULK3_ENST00000569437.1_5'Flank|ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000568667.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	269					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GAAGAAGCCAGCCACCACCAT	0.567																																							0											0													174.0	150.0	158.0					15																	75137863		2197	4295	6492	SO:0001583	missense	0			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.806C>T	15.37:g.75137863G>A	ENSP00000268099:p.Ala269Val		B2RDF0|Q9BQE8	Missense_Mutation	SNP	pfam_SCAMP	p.A269V	ENST00000268099.9	37	c.806	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.432743	0.96150	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.19394	2.15	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.59888	-0.7369	10	0.33940	T	0.23	.	17.1164	0.86690	0.0:0.0:1.0:0.0	.	269;238	O15127;B3KU14	SCAM2_HUMAN;.	V	269;238	ENSP00000268099:A269V	ENSP00000268099:A269V	A	-	2	0	SCAMP2	72924916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.797000	0.99108	2.273000	0.75805	0.585000	0.79938	GCT	0	pfam_SCAMP		0.567	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	protein_coding	OTTHUMT00000286403.3	28	115	0	0.00	0	0	G	NM_005697	0	0		75137863	-1	no_errors	ENST00000268099	ensembl	human	known	74_37	missense	12	86	33.33	26.50	6	31	SNP	1	A
C15orf39	56905	genome.wustl.edu	37	15	75499654	75499654	+	Missense_Mutation	SNP	C	C	T	rs149666825	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75499654C>T	ENST00000360639.2	+	2	1585	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	C15orf39_ENST00000567617.1_Missense_Mutation_p.A422V|C15orf39_ENST00000394987.4_Missense_Mutation_p.A422V			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	422						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTTTGCCAGCGAGCCAGCCC	0.642													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15909	0.0		0.0	False		,,,				2504	0.0						0.9996,0.0003994											0								C	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	40.0	44.0	43.0		1265	4.0	0.4	15	dbSNP_134	43	1,8589		0,1,4294	yes	missense	C15orf39	NM_015492.4	64	0,2,6490	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging	422/1048	75499654	2,12982	2197	4295	6492	SO:0001583	missense	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1265C>T	15.37:g.75499654C>T	ENSP00000353854:p.Ala422Val		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.A422V	ENST00000360639.2	37	c.1265	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768857	0.31320	2.28E-4	1.16E-4	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.62788	-0.0;-0.0	4.89	3.95	0.45737	.	0.262596	0.29145	N	0.013001	T	0.57873	0.2083	L	0.60455	1.87	0.09310	N	1	D	0.54772	0.968	B	0.44108	0.441	T	0.58098	-0.7696	10	0.59425	D	0.04	-12.0092	9.7819	0.40653	0.0:0.722:0.278:0.0	.	422	Q6ZRI6	CO039_HUMAN	V	422	ENSP00000353854:A422V;ENSP00000378438:A422V	ENSP00000353854:A422V	A	+	2	0	C15orf39	73286707	0.000000	0.05858	0.377000	0.26055	0.517000	0.34286	0.093000	0.15086	2.280000	0.76307	0.462000	0.41574	GCG	0	NULL		0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	protein_coding	OTTHUMT00000286410.1	40	52	0	0.00	0	0	C	NM_015492	rs149666825	C->T		75499654	1	no_errors	ENST00000360639	ensembl	human	known	74_37	missense	20	28	33.33	20.00	10	7	SNP	0.008	T
GOLGA6D	653643	genome.wustl.edu	37	15	75586105	75586105	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75586105C>T	ENST00000434739.3	+	15	1670	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	543						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						AGAAGGCGGACGGGACGGAGC	0.612																																							0											0													1.0	1.0	1.0					15																	75586105		98	475	573	SO:0001819	synonymous_variant	0				CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1629C>T	15.37:g.75586105C>T				Silent	SNP	NULL	p.D543	ENST00000434739.3	37	c.1629	CCDS45308.1	15																																																																																			0	NULL		0.612	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	protein_coding	OTTHUMT00000419798.1	83	29	0	0.00	0	0	C	NM_001145224	0	0		75586105	1	no_errors	ENST00000434739	ensembl	human	known	74_37	silent	36	31	25	13.89	12	5	SNP	0.954	T
SIN3A	25942	genome.wustl.edu	37	15	75706642	75706642	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:75706642G>A	ENST00000394947.3	-	4	691	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SIN3A_ENST00000394949.4_Missense_Mutation_p.A126V|SIN3A_ENST00000360439.4_Missense_Mutation_p.A126V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.A126V(2)		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						ATAAGATAGCGCATCCTCCAC	0.353																																							0											2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											80.0	70.0	74.0					15																	75706642		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.377C>T	15.37:g.75706642G>A	ENSP00000378402:p.Ala126Val			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.A126V	ENST00000394947.3	37	c.377	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.092524	0.94149	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.77750	-1.12;-1.12;-1.12	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.92964	0.7761	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94666	0.7852	10	0.54805	T	0.06	-17.3556	18.7528	0.91821	0.0:0.0:1.0:0.0	.	126	Q96ST3	SIN3A_HUMAN	V	126	ENSP00000378402:A126V;ENSP00000378403:A126V;ENSP00000353622:A126V	ENSP00000353622:A126V	A	-	2	0	SIN3A	73493695	1.000000	0.71417	0.981000	0.43875	0.727000	0.41649	9.775000	0.98995	2.671000	0.90904	0.585000	0.79938	GCG	0	superfamily_PAH		0.353	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	protein_coding	OTTHUMT00000286469.1	47	171	2.08	0.00	1	0	G	NM_015477	0	0		75706642	-1	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	22	135	38.89	25.68	14	47	SNP	1	A
ACAN	176	genome.wustl.edu	37	15	89398410	89398410	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:89398410A>G	ENST00000561243.1	+	11	2594	c.2594A>G	c.(2593-2595)gAt>gGt	p.D865G	ACAN_ENST00000352105.7_Missense_Mutation_p.D865G|ACAN_ENST00000559004.1_Missense_Mutation_p.D865G|ACAN_ENST00000439576.2_Missense_Mutation_p.D865G			P16112	PGCA_HUMAN	aggrecan	864	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGGCCCCTGATGTCAGTGGT	0.602																																							0											0													49.0	55.0	53.0					15																	89398410		2002	4172	6174	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2594A>G	15.37:g.89398410A>G	ENSP00000453342:p.Asp865Gly		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,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_dom,prints_Link	p.D865G	ENST00000561243.1	37	c.2594	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	A	12.26	1.883533	0.33255	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02812	4.41;4.15	5.79	3.29	0.37713	.	0.238709	0.21660	N	0.071038	T	0.03871	0.0109	N	0.22421	0.69	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.58660	0.843;0.843	T	0.46665	-0.9175	10	0.32370	T	0.25	-3.1012	3.0589	0.06193	0.5202:0.0:0.2031:0.2767	.	865;865	E7ENV9;E7EX88	.;.	G	865	ENSP00000387356:D865G;ENSP00000341615:D865G	ENSP00000268134:D865G	D	+	2	0	ACAN	87199414	0.076000	0.21285	0.458000	0.27068	0.510000	0.34073	1.556000	0.36288	2.198000	0.70561	0.533000	0.62120	GAT	0	NULL		0.602	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	29	76	0	1.30	0	1	A	NM_001135	0	0		89398410	1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	23	60	14.81	26.83	4	22	SNP	0	G
FANCI	55215	genome.wustl.edu	37	15	89858550	89858550	+	Missense_Mutation	SNP	G	G	A	rs121918163		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr15:89858550G>A	ENST00000310775.7	+	37	3940	c.3854G>A	c.(3853-3855)cGa>cAa	p.R1285Q	FANCI_ENST00000300027.8_Missense_Mutation_p.R1225Q|FANCI_ENST00000566615.1_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1285			R -> Q (in FA/FANCI; abolishes function in DNA repair). {ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773}.		cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGCACCTCACGAGACTTCAAG	0.483								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														0											0			GRCh37	CM071754	FANCI	M	rs121918163						168.0	138.0	148.0					15																	89858550		2200	4299	6499	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3854G>A	15.37:g.89858550G>A	ENSP00000310842:p.Arg1285Gln		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.R1285Q	ENST00000310775.7	37	c.3854	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.549143	0.96488	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	D;D	0.96427	-4.01;-4.01	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.98688	1.0695	10	0.87932	D	0	-11.2888	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1285;1224;1225	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	Q	1225;1285	ENSP00000300027:R1225Q;ENSP00000310842:R1285Q	ENSP00000300027:R1225Q	R	+	2	0	FANCI	87659554	1.000000	0.71417	0.093000	0.20910	0.996000	0.88848	9.430000	0.97488	2.713000	0.92767	0.655000	0.94253	CGA	0	NULL		0.483	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	protein_coding	OTTHUMT00000421140.1	52	143	0	0.00	0	0	G	NM_018193	rs121918163	G->A		89858550	1	no_errors	ENST00000310775	ensembl	human	known	74_37	missense	29	106	38.3	21.17	18	29	SNP	0.639	A
MRPL28	10573	genome.wustl.edu	37	16	418359	418359	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:418359G>A	ENST00000199706.8	-	5	667	c.632C>T	c.(631-633)gCc>gTc	p.A211V	MRPL28_ENST00000389675.2_Missense_Mutation_p.A211V|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	211					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CTTCTCAATGGCCTCCTCCAG	0.622																																							0											0													99.0	89.0	92.0					16																	418359		2203	4300	6503	SO:0001583	missense	0			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.632C>T	16.37:g.418359G>A	ENSP00000199706:p.Ala211Val		B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	NULL	p.A211V	ENST00000199706.8	37	c.632	CCDS32349.1	16	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823871	0.71143	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696	T;T;T;T	0.62639	0.25;0.25;0.33;0.01	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86279	0.1666	10	0.87932	D	0	-14.3661	17.1129	0.86680	0.0:0.0:1.0:0.0	.	211;211	Q13084;Q4TT38	RM28_HUMAN;.	V	211	ENSP00000199706:A211V;ENSP00000374326:A211V;ENSP00000398684:A211V;ENSP00000390399:A211V	ENSP00000199706:A211V	A	-	2	0	MRPL28	358360	1.000000	0.71417	0.519000	0.27824	0.021000	0.10359	7.772000	0.85439	2.030000	0.59900	0.557000	0.71058	GCC	0	NULL		0.622	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	protein_coding	OTTHUMT00000139285.2	58	110	0	0.00	0	0	G		0	0		418359	-1	no_errors	ENST00000199706	ensembl	human	known	74_37	missense	54	101	22.86	28.67	16	41	SNP	1	A
ZNF205	7755	genome.wustl.edu	37	16	3169491	3169491	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:3169491G>A	ENST00000382192.3	+	7	1035	c.830G>A	c.(829-831)cGc>cAc	p.R277H	RP11-473M20.14_ENST00000576490.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R277H	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CAGGAGTACCGCGTCCCGGAG	0.706																																							0											0													17.0	23.0	21.0					16																	3169491		2175	4282	6457	SO:0001583	missense	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.830G>A	16.37:g.3169491G>A	ENSP00000371627:p.Arg277His		A8MZK0|D3DUB4|Q9BU95	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.R277H	ENST00000382192.3	37	c.830	CCDS10494.2	16	.	.	.	.	.	.	.	.	.	.	G	7.877	0.729366	0.15507	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000414351	T;T;T	0.09817	3.12;3.12;2.94	3.73	-7.45	0.01374	.	2.138260	0.02140	N	0.057108	T	0.03305	0.0096	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40040	-0.9584	10	0.02654	T	1	-1.0389	9.0795	0.36542	0.6572:0.1158:0.227:0.0	.	277	O95201	ZN205_HUMAN	H	277	ENSP00000371627:R277H;ENSP00000219091:R277H;ENSP00000403306:R277H	ENSP00000219091:R277H	R	+	2	0	ZNF205	3109492	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.664000	0.01966	-1.778000	0.01282	-0.672000	0.03802	CGC	0	NULL		0.706	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	protein_coding	OTTHUMT00000309057.1	30	31	0	0.00	0	0	G	NM_003456	0	0		3169491	1	no_errors	ENST00000219091	ensembl	human	known	74_37	missense	14	35	33.33	22.22	7	10	SNP	0	A
ZNF213	7760	genome.wustl.edu	37	16	3191340	3191340	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:3191340G>A	ENST00000396878.3	+	6	1847	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	ZNF213_ENST00000416391.2_Missense_Mutation_p.V300M|ZNF213_ENST00000574902.1_Missense_Mutation_p.V458M|CASP16_ENST00000428155.1_5'Flank|ZNF213_ENST00000576416.1_Missense_Mutation_p.V458M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	458					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCCCAGCCCGTGGGGTGAGC	0.667																																							0											0													16.0	18.0	18.0					16																	3191340		2167	4238	6405	SO:0001583	missense	0			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.1372G>A	16.37:g.3191340G>A	ENSP00000380087:p.Val458Met		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V458M	ENST00000396878.3	37	c.1372	CCDS10495.1	16	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255575	0.39896	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.05855	3.39;3.38	5.09	4.13	0.48395	.	0.000000	0.34088	N	0.004279	T	0.04048	0.0113	N	0.14661	0.345	0.32701	N	0.512914	B	0.29590	0.25	B	0.21546	0.035	T	0.13683	-1.0500	10	0.59425	D	0.04	.	9.6272	0.39757	0.0975:0.0:0.9025:0.0	.	458	O14771	ZN213_HUMAN	M	458;300	ENSP00000380087:V458M;ENSP00000403892:V300M	ENSP00000380087:V458M	V	+	1	0	ZNF213	3131341	0.772000	0.28567	0.903000	0.35520	0.594000	0.36715	1.516000	0.35856	1.137000	0.42214	0.462000	0.41574	GTG	0	NULL		0.667	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	protein_coding	OTTHUMT00000437334.1	9	41	0	0.00	0	0	G	NM_004220	0	0		3191340	1	no_errors	ENST00000396878	ensembl	human	known	74_37	missense	8	29	50	29.27	8	12	SNP	0.98	A
NLRC3	197358	genome.wustl.edu	37	16	3614772	3614772	+	RNA	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:3614772G>T	ENST00000301749.7	-	0	584				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGGACAGAGGCCAGTGGGG	0.667																																							0											0													8.0	10.0	9.0					16																	3614772		2016	4126	6142			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614772G>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	0	NULL	ENST00000301749.7	37	NULL		16																																																																																			0	0		0.667	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	polymorphic_pseudogene		44	109	0	0.00	0	0	G	NM_178844	0	0		3614772	-1	no_errors	ENST00000603055	ensembl	human	known	74_37	rna	18	73	30.77	27.72	8	28	SNP	0.021	T
METTL22	79091	genome.wustl.edu	37	16	8738419	8738419	+	Missense_Mutation	SNP	A	A	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:8738419A>C	ENST00000381920.3	+	10	1274	c.1016A>C	c.(1015-1017)aAc>aCc	p.N339T	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.N283T	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	339						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						TGCAGGCTCAACTTCACATTG	0.547																																							0											0													234.0	233.0	233.0					16																	8738419		2102	4228	6330	SO:0001583	missense	0			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.1016A>C	16.37:g.8738419A>C	ENSP00000371345:p.Asn339Thr		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.N339T	ENST00000381920.3	37	c.1016	CCDS10533.2	16	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054789	0.75960	.	.	ENSG00000067365	ENST00000381920	T	0.41065	1.01	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.96	T	0.65319	-0.6197	10	0.56958	D	0.05	-25.7982	12.9165	0.58209	1.0:0.0:0.0:0.0	.	114;339	Q9BUU2-3;Q9BUU2	.;MET22_HUMAN	T	339	ENSP00000371345:N339T	ENSP00000371345:N339T	N	+	2	0	METTL22	8645920	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.819000	0.86621	2.076000	0.62316	0.397000	0.26171	AAC	0	pfam_Nicotinamide_N-MeTfrase-like		0.547	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL22	protein_coding	OTTHUMT00000251901.1	53	138	0	0.00	0	0	A	NM_024109	0	0		8738419	1	no_errors	ENST00000381920	ensembl	human	known	74_37	missense	28	108	22.22	29.87	8	46	SNP	1	C
CLEC16A	23274	genome.wustl.edu	37	16	11097045	11097045	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:11097045G>A	ENST00000409790.1	+	11	1416	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I	CLEC16A_ENST00000409552.3_Missense_Mutation_p.V394I	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTACAAAAACGTTGGGGAAGA	0.527																																							0											0													68.0	72.0	71.0					16																	11097045		1923	4131	6054	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1186G>A	16.37:g.11097045G>A	ENSP00000387122:p.Val396Ile			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.V396I	ENST00000409790.1	37	c.1186	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059826	0.55325	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.45668	0.89	5.62	5.62	0.85841	.	0.195600	0.43747	D	0.000540	T	0.35451	0.0932	L	0.50333	1.59	0.80722	D	1	P;P	0.42357	0.734;0.777	B;B	0.33196	0.129;0.159	T	0.16689	-1.0394	10	0.16896	T	0.51	-13.4695	18.6399	0.91392	0.0:0.0:1.0:0.0	.	396;394	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	I	396;396;394	ENSP00000387122:V396I	ENSP00000386495:V394I	V	+	1	0	CLEC16A	11004546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.169000	0.71913	2.662000	0.90505	0.655000	0.94253	GTT	0	NULL		0.527	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	protein_coding	OTTHUMT00000328540.2	54	107	0	0.00	0	0	G	NM_015226	0	0		11097045	1	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	19	103	32.14	27.46	9	39	SNP	1	A
ABCC6	368	genome.wustl.edu	37	16	16315498	16315498	+	Intron	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:16315498G>A	ENST00000205557.7	-	2	249				ABCC6_ENST00000574094.1_5'UTR|ABCC6_ENST00000575728.1_Missense_Mutation_p.A76V|RP11-517A5.7_ENST00000574883.1_RNA	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6						response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCCAGGGATGGCAGCTACCAT	0.582																																							0											0													27.0	26.0	26.0					16																	16315498		2197	4300	6497	SO:0001627	intron_variant	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.219+7C>T	16.37:g.16315498G>A			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	NULL	p.A76V	ENST00000205557.7	37	c.227	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	.	15.32	2.797876	0.50208	.	.	ENSG00000091262	ENST00000546056	.	.	.	4.35	0.896	0.19253	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.21280	-1.0250	7	0.44086	T	0.13	.	6.4212	0.21744	0.3756:0.0:0.6244:0.0	.	76;76	F5GWQ0;Q8TCY8	.;.	V	76	.	ENSP00000441745:A76V	A	-	2	0	ABCC6	16222999	0.000000	0.05858	0.000000	0.03702	0.660000	0.38997	0.055000	0.14229	0.025000	0.15241	0.485000	0.47835	GCC	0	NULL		0.582	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	protein_coding	OTTHUMT00000252232.2	85	134	0	0.00	0	0	G		0	0		16315498	-1	no_errors	ENST00000575728	ensembl	human	putative	74_37	missense	52	108	25.71	34.15	18	56	SNP	0	A
NOMO3	408050	genome.wustl.edu	37	16	16338949	16338949	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:16338949G>T	ENST00000399336.4	+	5	599	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C	NOMO3_ENST00000263012.6_Missense_Mutation_p.G143C|NOMO3_ENST00000538468.1_Intron	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	143						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCAGCCCCTGGGTCCTGCGGG	0.567																																							0											0													1.0	2.0	2.0					16																	16338949		958	2639	3597	SO:0001583	missense	0			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.427G>T	16.37:g.16338949G>T	ENSP00000382274:p.Gly143Cys			Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.G143C	ENST00000399336.4	37	c.427	CCDS42123.1	16	.	.	.	.	.	.	.	.	.	.	.	17.14	3.314389	0.60414	.	.	ENSG00000103226	ENST00000263012;ENST00000399336	T;T	0.12147	2.71;2.74	3.33	3.33	0.38152	Carboxypeptidase-like, regulatory domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.86178	2.8	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.99	T	0.53099	-0.8486	10	0.72032	D	0.01	-16.5687	15.0643	0.71980	0.0:0.0:1.0:0.0	.	143;143	P69849;Q5JPE7-2	NOMO3_HUMAN;.	C	143	ENSP00000263012:G143C;ENSP00000382274:G143C	ENSP00000263012:G143C	G	+	1	0	NOMO3	16246450	1.000000	0.71417	0.974000	0.42286	0.660000	0.38997	9.083000	0.94067	1.598000	0.50083	0.186000	0.17326	GGT	0	superfamily_CarboxyPept-like_regulatory		0.567	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO3	protein_coding	OTTHUMT00000409528.13	31	13	0	0.00	0	0	G	NM_001004067	0	0		16338949	1	no_errors	ENST00000399336	ensembl	human	known	74_37	missense	14	7	30	30.00	6	3	SNP	1	T
CD19	930	genome.wustl.edu	37	16	28944391	28944391	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:28944391C>T	ENST00000324662.3	+	3	559	c.515C>T	c.(514-516)cCg>cTg	p.P172L	CD19_ENST00000567541.1_Missense_Mutation_p.P172L|CD19_ENST00000538922.1_Missense_Mutation_p.P172L			P15391	CD19_HUMAN	CD19 molecule	172					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAGAGCCTCCGTGTCTCCCA	0.647																																							0											0													40.0	35.0	37.0					16																	28944391		2197	4300	6497	SO:0001583	missense	0				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.515C>T	16.37:g.28944391C>T	ENSP00000313419:p.Pro172Leu		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.P172L	ENST00000324662.3	37	c.515	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395118	0.25205	.	.	ENSG00000177455	ENST00000538922;ENST00000324662;ENST00000537306	T;T	0.37235	1.21;1.21	5.16	-3.17	0.05202	.	13.638300	0.00810	N	0.001495	T	0.27134	0.0665	L	0.38175	1.15	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.06405	0.002;0.001	T	0.08827	-1.0703	10	0.27082	T	0.32	6.3632	6.0098	0.19569	0.1355:0.3919:0.0:0.4726	.	172;172	F5H635;P15391	.;CD19_HUMAN	L	172;172;21	ENSP00000437940:P172L;ENSP00000313419:P172L	ENSP00000313419:P172L	P	+	2	0	CD19	28851892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.859000	0.04277	-1.555000	0.01697	-1.644000	0.00765	CCG	0	NULL		0.647	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	protein_coding	OTTHUMT00000214152.2	12	97	0	0.00	0	0	C		0	0		28944391	1	no_errors	ENST00000538922	ensembl	human	known	74_37	missense	9	82	25	31.09	3	37	SNP	0	T
ZNF629	23361	genome.wustl.edu	37	16	30793648	30793648	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:30793648G>A	ENST00000262525.4	-	3	2208	c.2001C>T	c.(1999-2001)tgC>tgT	p.C667C	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCTCTCCGCAGTGGGAGC	0.617																																							0											0													18.0	19.0	19.0					16																	30793648		2032	4192	6224	SO:0001819	synonymous_variant	0			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2001C>T	16.37:g.30793648G>A			Q15938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C667	ENST00000262525.4	37	c.2001	CCDS45463.1	16																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.617	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	protein_coding	OTTHUMT00000434291.1	37	79	0	0.00	0	0	G	NM_015309	0	0		30793648	-1	no_errors	ENST00000262525	ensembl	human	known	74_37	silent	28	74	26.32	26.73	10	27	SNP	0.949	A
ITGAD	3681	genome.wustl.edu	37	16	31408919	31408919	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:31408919C>T	ENST00000389202.2	+	4	293	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	82					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTTGCAGTCCGCCCTGAGGC	0.652																																							0											0													48.0	40.0	43.0					16																	31408919		2197	4300	6497	SO:0001583	missense	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.244C>T	16.37:g.31408919C>T	ENSP00000373854:p.Arg82Cys		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R82C	ENST00000389202.2	37	c.244	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308496	0.40895	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.71698	-0.59	4.26	1.2	0.21068	.	.	.	.	.	T	0.59756	0.2217	N	0.08118	0	0.09310	N	1	D;D;D	0.67145	0.996;0.978;0.96	P;P;P	0.55871	0.786;0.513;0.513	T	0.51849	-0.8653	9	0.87932	D	0	.	6.5197	0.22269	0.0:0.5903:0.0:0.4097	.	82;98;82	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	C	98;82	ENSP00000373854:R82C	ENSP00000373854:R82C	R	+	1	0	ITGAD	31316420	0.002000	0.14202	0.004000	0.12327	0.002000	0.02628	0.765000	0.26546	0.170000	0.19704	-0.143000	0.13931	CGC	0	NULL		0.652	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	protein_coding	OTTHUMT00000432836.1	46	83	0	0.00	0	0	C	NM_005353	0	0		31408919	1	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	26	56	31.58	26.32	12	20	SNP	0.071	T
TP53TG3D	729264	genome.wustl.edu	37	16	32265819	32265819	+	IGR	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:32265819T>C	ENST00000354614.3	+	0	412				RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000398664.3_Intron|TP53TG3D_ENST00000569631.1_3'UTR|TP53TG3D_ENST00000564810.1_3'UTR			Q9ULZ0	T53G3_HUMAN	TP53 target 3D							cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCACCAGTGTAATAAAGAGG	0.592																																							0											0																																										SO:0001628	intergenic_variant	0				CCDS58456.1	16p11.2	2012-12-11			ENSG00000205456	ENSG00000205456			44657	protein-coding gene	gene with protein product							Standard	NM_001243722		Approved		uc021tgy.1	Q9ULZ0	OTTHUMG00000132469		16.37:g.32265819T>C			B2R5K6|Q4KN31|Q9ULY9	RNA	SNP	0	NULL	ENST00000354614.3	37	NULL		16																																																																																			0	0		0.592	TP53TG3D-201	KNOWN	basic|appris_candidate_longest	protein_coding	TP53TG3D	protein_coding		55	42	0	0.00	0	0	T	NM_001243722	0	0		32265819	1	no_errors	ENST00000564810	ensembl	human	known	74_37	rna	16	15	65.96	62.50	31	25	SNP	0.244	C
NKD1	85407	genome.wustl.edu	37	16	50583397	50583397	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:50583397G>A	ENST00000268459.3	+	3	347	c.123G>A	c.(121-123)caG>caA	p.Q41Q	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.1_ENST00000569940.2_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	41					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCGGGAGACAGCGCTGCCCGG	0.692																																							0											0													27.0	29.0	28.0					16																	50583397		2198	4300	6498	SO:0001819	synonymous_variant	0			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.123G>A	16.37:g.50583397G>A			B2RC39|Q8WZ08	Silent	SNP	pfscan_EF_hand_dom	p.Q41	ENST00000268459.3	37	c.123	CCDS10743.1	16																																																																																			0	NULL		0.692	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	protein_coding	OTTHUMT00000256873.1	66	34	0	0.00	0	0	G		0	0		50583397	1	no_errors	ENST00000268459	ensembl	human	known	74_37	silent	37	18	36.21	28.00	21	7	SNP	1	A
CNGB1	1258	genome.wustl.edu	37	16	57953050	57953050	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:57953050C>T	ENST00000251102.8	-	20	1970	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	CNGB1_ENST00000564448.1_Missense_Mutation_p.R631H	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	637					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTTCCAGGGGCGGTGTTTGAA	0.562																																					Colon(156;1293 1853 16336 28962 38659)		0											0													101.0	104.0	103.0					16																	57953050		2004	4182	6186	SO:0001583	missense	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1910G>A	16.37:g.57953050C>T	ENSP00000251102:p.Arg637His		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R637H	ENST00000251102.8	37	c.1910	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731484	0.69189	.	.	ENSG00000070729	ENST00000251102	D	0.97016	-4.21	4.73	3.77	0.43336	.	0.129530	0.33732	N	0.004619	D	0.96525	0.8866	M	0.68952	2.095	0.80722	D	1	P;D	0.71674	0.633;0.998	B;P	0.58210	0.309;0.835	D	0.95951	0.8954	10	0.66056	D	0.02	.	9.2169	0.37353	0.0:0.8231:0.0:0.1769	.	9;637	Q14028-2;Q14028	.;CNGB1_HUMAN	H	637	ENSP00000251102:R637H	ENSP00000251102:R637H	R	-	2	0	CNGB1	56510551	0.729000	0.28090	1.000000	0.80357	0.842000	0.47809	1.180000	0.32005	1.361000	0.45981	0.561000	0.74099	CGC	0	NULL		0.562	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	protein_coding	OTTHUMT00000337167.2	66	162	0	0.00	0	0	C	NM_001297	0	0		57953050	-1	no_errors	ENST00000251102	ensembl	human	known	74_37	missense	25	77	46.81	41.22	22	54	SNP	1	T
CNOT1	23019	genome.wustl.edu	37	16	58580623	58580623	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:58580623C>T	ENST00000317147.5	-	28	4113	c.3781G>A	c.(3781-3783)Gca>Aca	p.A1261T	CNOT1_ENST00000569240.1_Missense_Mutation_p.A1256T|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Missense_Mutation_p.A112T|CNOT1_ENST00000441024.2_Missense_Mutation_p.A1261T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1261	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCATAATTGCCATTGTCCAA	0.358																																							0											0													110.0	104.0	106.0					16																	58580623		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3781G>A	16.37:g.58580623C>T	ENSP00000320949:p.Ala1261Thr		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.A1261T	ENST00000317147.5	37	c.3781	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.174038	0.94807	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.18810	2.19;2.19	5.82	4.87	0.63330	.	0.046444	0.85682	D	0.000000	T	0.34687	0.0906	M	0.64260	1.97	0.80722	D	1	B;B;P;P	0.38250	0.282;0.275;0.624;0.561	B;B;B;P	0.48189	0.414;0.147;0.212;0.57	T	0.06516	-1.0822	10	0.44086	T	0.13	.	14.8962	0.70646	0.0:0.9312:0.0:0.0688	.	112;1261;1261;1256	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	T	1261;112;1256;1261	ENSP00000320949:A1261T;ENSP00000413113:A1261T	ENSP00000245138:A112T	A	-	1	0	CNOT1	57138124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.471000	0.48121	0.650000	0.86243	GCA	0	NULL		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	protein_coding	OTTHUMT00000257385.3	51	282	0	0.00	0	0	C	NM_016284	0	0		58580623	-1	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	14	154	44	36.89	11	90	SNP	1	T
CES2	8824	genome.wustl.edu	37	16	66974547	66974547	+	Silent	SNP	C	C	T	rs556416386	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:66974547C>T	ENST00000317091.4	+	5	1941	c.957C>T	c.(955-957)ggC>ggT	p.G319G	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Silent_p.G319G	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	255					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	TGGAGAGTGGCGTGGCCCTCC	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		19258	0.0		0.0	False		,,,				2504	0.002				Ovarian(70;1230 1691 37888 38351)		0.9996,0.0003994											0																																										SO:0001819	synonymous_variant	0			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.957C>T	16.37:g.66974547C>T			A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G319	ENST00000317091.4	37	c.957	CCDS10825.1	16																																																																																			0	pfam_CarbesteraseB		0.597	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES2	protein_coding	OTTHUMT00000268838.2	28	107	0	0.00	0	0	C	NM_003869	rs556416386	C->T		66974547	1	no_errors	ENST00000317091	ensembl	human	known	74_37	silent	6	43	45.45	34.85	5	23	SNP	0.457	T
ZFHX3	463	genome.wustl.edu	37	16	72828653	72828653	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:72828653C>T	ENST00000268489.5	-	9	8600	c.7928G>A	c.(7927-7929)cGt>cAt	p.R2643H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1729H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2643					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2643H(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTTCTCAAACGCTTGTCTCT	0.483																																							0											1	Substitution - Missense(1)	endometrium(1)											289.0	305.0	299.0					16																	72828653		2198	4300	6498	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7928G>A	16.37:g.72828653C>T	ENSP00000268489:p.Arg2643His		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R2643H	ENST00000268489.5	37	c.7928	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138271	0.37728	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.97138	-4.26;-4.26	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.50627	D	0.000118	D	0.99254	0.9740	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98630	1.0671	10	0.87932	D	0	.	19.683	0.95971	0.0:1.0:0.0:0.0	.	2643	Q15911	ZFHX3_HUMAN	H	2643;1729	ENSP00000268489:R2643H;ENSP00000438926:R1729H	ENSP00000268489:R2643H	R	-	2	0	ZFHX3	71386154	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	6.088000	0.71371	2.653000	0.90120	0.561000	0.74099	CGT	0	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.483	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	65	243	0	0.81	0	2	C	NM_006885	0	0		72828653	-1	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	24	134	27.27	25.14	9	45	SNP	1	T
JPH3	57338	genome.wustl.edu	37	16	87730277	87730277	+	3'UTR	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:87730277C>T	ENST00000284262.2	+	0	2500				AC010536.1_ENST00000538868.1_5'Flank|JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3						calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGAGATGTCGCGGTAGCAAAA	0.458																																							0											0													62.0	60.0	61.0					16																	87730277		2198	4300	6498	SO:0001624	3_prime_UTR_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.*11C>T	16.37:g.87730277C>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	RNA	SNP	0	NULL	ENST00000284262.2	37	NULL	CCDS10962.1	16																																																																																			0	0		0.458	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	protein_coding	OTTHUMT00000269108.2	53	157	0	0.00	0	0	C		0	0		87730277	1	no_errors	ENST00000537256	ensembl	human	known	74_37	rna	15	84	25	31.45	5	39	SNP	0	T
PABPN1L	390748	genome.wustl.edu	37	16	88930697	88930697	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:88930697G>T	ENST00000419291.2	-	6	756	c.745C>A	c.(745-747)Ccc>Acc	p.P249T	PABPN1L_ENST00000427766.1_Missense_Mutation_p.P213H|PABPN1L_ENST00000411789.2_Silent_p.S219S|PABPN1L_ENST00000378358.4_Missense_Mutation_p.P249T	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	249						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						CCGCTGTGGGGGAAGGGTGCC	0.687																																							0											0													25.0	30.0	28.0					16																	88930697		1844	4005	5849	SO:0001583	missense	0				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"""RNA binding motif (RRM) containing"""	37237	protein-coding gene	gene with protein product	"""embryonic poly(A) binding protein 2"""					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.745C>A	16.37:g.88930697G>T	ENSP00000408598:p.Pro249Thr		A1L3B3|A2VDI2	Missense_Mutation	SNP	NULL	p.P213H	ENST00000419291.2	37	c.638	CCDS45547.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.20|16.20	3.055631|3.055631	0.55325|0.55325	.|.	.|.	ENSG00000205022|ENSG00000205022	ENST00000427766;ENST00000547152|ENST00000378358;ENST00000419291	.|T;T	.|0.15603	.|2.41;2.65	4.45|4.45	1.31|1.31	0.21738|0.21738	.|.	1.068020|1.068020	0.07182|0.07182	N|N	0.854273|0.854273	T|T	0.14485|0.14485	0.0350|0.0350	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	D|B;B	0.89917|0.33073	1.0|0.396;0.218	D|B;B	0.70935|0.29785	0.971|0.107;0.058	T|T	0.33777|0.33777	-0.9855|-0.9855	9|10	0.66056|0.22706	D|T	0.02|0.39	-31.3305|-31.3305	7.5088|7.5088	0.27562|0.27562	0.2877:0.0:0.7123:0.0|0.2877:0.0:0.7123:0.0	.|.	213|249;249	C9JEK9|A6NDY0;A6NDY0-4	.|EPAB2_HUMAN;.	H|T	213|249	.|ENSP00000367609:P249T;ENSP00000408598:P249T	ENSP00000390913:P213H|ENSP00000367609:P249T	P|P	-|-	2|1	0|0	PABPN1L|PABPN1L	87458198|87458198	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.237000|0.237000	0.25408|0.25408	0.560000|0.560000	0.23500|0.23500	0.092000|0.092000	0.17331|0.17331	0.306000|0.306000	0.20318|0.20318	CCC|CCC	0	NULL		0.687	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPN1L	protein_coding	OTTHUMT00000407502.1	20	80	0	0.00	0	0	G	NM_001080487	0	0		88930697	-1	no_errors	ENST00000427766	ensembl	human	known	74_37	missense	13	38	31.58	37.70	6	23	SNP	0.014	T
CPNE7	27132	genome.wustl.edu	37	16	89653462	89653462	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:89653462G>A	ENST00000268720.5	+	11	1234	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	CPNE7_ENST00000319518.8_Silent_p.V293V	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	368					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCACAGGGTGTACTCCTTCC	0.697																																							0											0													108.0	97.0	101.0					16																	89653462		2193	4287	6480	SO:0001819	synonymous_variant	0			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1104G>A	16.37:g.89653462G>A				Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.V368	ENST00000268720.5	37	c.1104	CCDS10980.1	16																																																																																			0	NULL		0.697	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	protein_coding	OTTHUMT00000269929.2	49	37	0	0.00	0	0	G		0	0		89653462	1	no_errors	ENST00000268720	ensembl	human	known	74_37	silent	20	15	35.48	40.00	11	10	SNP	0.996	A
WDR81	124997	genome.wustl.edu	37	17	1629622	1629622	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:1629622C>T	ENST00000409644.1	+	1	1369	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	457	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAAGGCTCGGCGCACGCCTCG	0.652																																							0											0													24.0	27.0	26.0					17																	1629622		692	1588	2280	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1369C>T	17.37:g.1629622C>T	ENSP00000386609:p.Arg457Cys		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R457C	ENST00000409644.1	37	c.1369	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815583	0.50527	.	.	ENSG00000167716	ENST00000409644	T	0.80123	-1.34	5.4	3.27	0.37495	.	.	.	.	.	D	0.84768	0.5545	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85239	0.1037	6	0.49607	T	0.09	.	13.5457	0.61702	0.4382:0.5618:0.0:0.0	.	.	.	.	C	457	ENSP00000386609:R457C	ENSP00000386609:R457C	R	+	1	0	WDR81	1576372	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	1.878000	0.39608	1.259000	0.44117	0.462000	0.41574	CGC	0	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.652	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	10	41	0	0.00	0	0	C	NM_152348	0	0		1629622	1	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	11	52	26.67	20.00	4	13	SNP	1	T
WDR81	124997	genome.wustl.edu	37	17	1637359	1637359	+	Silent	SNP	G	G	A	rs542515276		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:1637359G>A	ENST00000409644.1	+	7	5028	c.5028G>A	c.(5026-5028)ccG>ccA	p.P1676P	WDR81_ENST00000437219.2_Silent_p.P473P|WDR81_ENST00000545662.1_Silent_p.P307P|WDR81_ENST00000309182.5_Silent_p.P625P|WDR81_ENST00000419248.1_Silent_p.P449P|WDR81_ENST00000446363.1_Silent_p.P315P|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1676					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCTCTGGCCGCTGTACAACT	0.677																																							0											0													49.0	46.0	47.0					17																	1637359		2203	4296	6499	SO:0001819	synonymous_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5028G>A	17.37:g.1637359G>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1676	ENST00000409644.1	37	c.5028	CCDS54062.1	17																																																																																			0	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	protein_coding	OTTHUMT00000333118.2	33	26	0	0.00	0	0	G	NM_152348	0	0		1637359	1	no_errors	ENST00000409644	ensembl	human	known	74_37	silent	12	21	20	37.14	3	13	SNP	0.047	A
OR3A1	4994	genome.wustl.edu	37	17	3195464	3195464	+	Missense_Mutation	SNP	C	C	G	rs143631940		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:3195464C>G	ENST00000323404.1	-	1	412	c.413G>C	c.(412-414)cGc>cCc	p.R138P	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582																																					GBM(20;287 516 18743 28660 36594)		0											0													116.0	111.0	113.0					17																	3195464		2203	4300	6503	SO:0001583	missense	0			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.413G>C	17.37:g.3195464C>G	ENSP00000313803:p.Arg138Pro		Q4VB06|Q6IFM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R138P	ENST00000323404.1	37	c.413	CCDS11023.1	17	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350493	0.41599	.	.	ENSG00000180090	ENST00000323404	T	0.00220	8.52	5.31	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.131866	0.35291	N	0.003317	T	0.00210	0.0006	L	0.52573	1.65	0.09310	N	1	P	0.46512	0.879	P	0.50708	0.648	T	0.46569	-0.9182	10	0.41790	T	0.15	-13.4225	3.982	0.09499	0.2805:0.4667:0.0:0.2528	.	138	P47881	OR3A1_HUMAN	P	138	ENSP00000313803:R138P	ENSP00000313803:R138P	R	-	2	0	OR3A1	3142214	0.000000	0.05858	0.923000	0.36655	0.826000	0.46750	-0.014000	0.12656	0.785000	0.33685	0.650000	0.86243	CGC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.582	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	protein_coding	OTTHUMT00000207302.2	47	61	0	0.00	0	0	C		0	0		3195464	-1	no_errors	ENST00000323404	ensembl	human	known	74_37	missense	32	45	33.33	19.64	16	11	SNP	0.004	G
OR1E1	8387	genome.wustl.edu	37	17	3301569	3301569	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:3301569T>C	ENST00000322608.2	-	1	135	c.136A>G	c.(136-138)Att>Gtt	p.I46V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	46					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						ATGAGGACAATGATGAGGAGG	0.532																																							0											0													104.0	100.0	101.0					17																	3301569		2203	4300	6503	SO:0001583	missense	0			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.136A>G	17.37:g.3301569T>C	ENSP00000313384:p.Ile46Val		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I46V	ENST00000322608.2	37	c.136	CCDS11024.1	17	.	.	.	.	.	.	.	.	.	.	T	6.852	0.526447	0.13066	.	.	ENSG00000180016	ENST00000322608	T	0.02812	4.15	4.39	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.195135	0.36200	N	0.002727	T	0.02767	0.0083	L	0.39245	1.2	0.09310	N	0.999999	B	0.12630	0.006	B	0.14578	0.011	T	0.41142	-0.9525	10	0.45353	T	0.12	.	6.1315	0.20207	0.0:0.0882:0.1629:0.7489	.	46	P30953	OR1E1_HUMAN	V	46	ENSP00000313384:I46V	ENSP00000313384:I46V	I	-	1	0	OR1E1	3248319	0.277000	0.24220	0.297000	0.24988	0.633000	0.38033	0.185000	0.16958	0.225000	0.20959	0.456000	0.33151	ATT	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	protein_coding	OTTHUMT00000207303.1	67	90	0	0.00	0	0	T	NM_003553	0	0		3301569	-1	no_errors	ENST00000322608	ensembl	human	known	74_37	missense	30	66	33.33	23.26	15	20	SNP	0.175	C
SPNS3	201305	genome.wustl.edu	37	17	4389637	4389637	+	Intron	SNP	G	G	A	rs552540587		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:4389637G>A	ENST00000355530.2	+	10	1558				RP13-580F15.2_ENST00000576086.1_RNA|SPNS3_ENST00000333476.2_Intron|RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)						lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						ACGTGTCTGCGTGTGTGGGGT	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14977	0.0		0.001	False		,,,				2504	0.0						0.9998,0.0001997											0													39.0	39.0	39.0					17																	4389637		2203	4300	6503	SO:0001627	intron_variant	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1278+16G>A	17.37:g.4389637G>A			Q8IZ31	RNA	SNP	0	NULL	ENST00000355530.2	37	NULL	CCDS11045.1	17																																																																																			0	0		0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262823	protein_coding	OTTHUMT00000438793.1	40	83	0	0.00	0	0	G	NM_182538	rs552540587	G->A		4389637	-1	no_errors	ENST00000576086	ensembl	human	known	74_37	rna	24	63	20	30.77	6	28	SNP	0	A
WSCD1	23302	genome.wustl.edu	37	17	5984033	5984033	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:5984033C>T	ENST00000574946.1	+	2	445	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	WSCD1_ENST00000317744.5_Silent_p.L19L|WSCD1_ENST00000539421.1_Silent_p.L19L|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000574232.1_Silent_p.L19L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	19						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACAGTTCCTGCTGTTCTTCCT	0.677																																							0											0													36.0	34.0	35.0					17																	5984033		2130	4140	6270	SO:0001819	synonymous_variant	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.55C>T	17.37:g.5984033C>T			A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.L19	ENST00000574946.1	37	c.55	CCDS32538.1	17																																																																																			0	NULL		0.677	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	protein_coding	OTTHUMT00000438965.4	42	106	0	0.00	0	0	C	NM_015253	0	0		5984033	1	no_errors	ENST00000317744	ensembl	human	known	74_37	silent	28	88	12.5	34.07	4	46	SNP	1	T
SLC13A5	284111	genome.wustl.edu	37	17	6609990	6609990	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:6609990C>T	ENST00000433363.2	-	3	572	c.339G>A	c.(337-339)acG>acA	p.T113T	SLC13A5_ENST00000381074.4_Silent_p.T70T|SLC13A5_ENST00000293800.6_Silent_p.T113T|SLC13A5_ENST00000573648.1_Silent_p.T113T	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	113					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CCCAGAGGAGCGTGCGCAGGG	0.632																																							0											0													62.0	52.0	55.0					17																	6609990		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.339G>A	17.37:g.6609990C>T			B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Silent	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T113	ENST00000433363.2	37	c.339	CCDS11079.1	17																																																																																			0	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom		0.632	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	protein_coding	OTTHUMT00000219853.2	27	70	0	0.00	0	0	C	NM_177550	0	0		6609990	-1	no_errors	ENST00000433363	ensembl	human	known	74_37	silent	2	54	66.67	30.77	4	24	SNP	0.897	T
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)		0	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	0	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	15	161	6.25	0.60	1	1	G	NM_000546	rs121913343	G->A		7577121	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	11	141	31.25	25.00	5	47	SNP	0.83	A
DNAH2	146754	genome.wustl.edu	37	17	7720010	7720010	+	Missense_Mutation	SNP	C	C	T	rs140494502	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:7720010C>T	ENST00000572933.1	+	64	11311	c.9851C>T	c.(9850-9852)tCg>tTg	p.S3284L	DNAH2_ENST00000389173.2_Missense_Mutation_p.S3284L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3284					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGCTCGTGTCGGGGTTGGCT	0.552																																							0											0								C	LEU/SER	0,4406		0,0,2203	142.0	123.0	129.0		9851	3.6	0.8	17	dbSNP_134	129	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DNAH2	NM_020877.2	145	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	3284/4428	7720010	3,13003	2203	4300	6503	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9851C>T	17.37:g.7720010C>T	ENSP00000458355:p.Ser3284Leu		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S3284L	ENST00000572933.1	37	c.9851	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143159	0.37825	0.0	3.49E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.74632	-0.86	4.58	3.6	0.41247	Dynein heavy chain, coiled coil stalk (1);	0.142348	0.48767	D	0.000179	T	0.72590	0.3479	M	0.79475	2.455	0.80722	D	1	P;P	0.52692	0.945;0.955	B;B	0.39503	0.301;0.298	T	0.76881	-0.2795	10	0.48119	T	0.1	.	13.9574	0.64157	0.0:0.8463:0.1537:0.0	.	3245;3284	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3245;3284	ENSP00000373825:S3284L	ENSP00000353818:S3245L	S	+	2	0	DNAH2	7660735	0.997000	0.39634	0.815000	0.32552	0.264000	0.26372	3.746000	0.55127	1.260000	0.44134	0.561000	0.74099	TCG	0	NULL		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	58	117	0	0.00	0	0	C	NM_020877	rs140494502	C->T		7720010	1	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	26	81	18.75	30.17	6	35	SNP	0.94	T
GUCY2D	3000	genome.wustl.edu	37	17	7915475	7915475	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:7915475G>A	ENST00000254854.4	+	9	1913	c.1763G>A	c.(1762-1764)cGg>cAg	p.R588Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	588	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CAGGAGCTCCGGCATGAGAAC	0.592																																							0											0													30.0	34.0	33.0					17																	7915475		2203	4300	6503	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1763G>A	17.37:g.7915475G>A	ENSP00000254854:p.Arg588Gln		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R588Q	ENST00000254854.4	37	c.1763	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.561936	0.96527	.	.	ENSG00000132518	ENST00000254854	T	0.63096	-0.02	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44285	D	0.000467	T	0.74504	0.3725	M	0.64404	1.975	0.46044	D	0.998833	D	0.69078	0.997	P	0.62491	0.903	T	0.70978	-0.4725	10	0.32370	T	0.25	.	17.9185	0.88959	0.0:0.0:1.0:0.0	.	588	Q02846	GUC2D_HUMAN	Q	588	ENSP00000254854:R588Q	ENSP00000254854:R588Q	R	+	2	0	GUCY2D	7856200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.771000	0.85420	2.769000	0.95229	0.563000	0.77884	CGG	0	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.592	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	protein_coding	OTTHUMT00000226973.2	20	113	0	0.00	0	0	G		0	0		7915475	1	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	9	75	25	41.86	3	54	SNP	1	A
MYH13	8735	genome.wustl.edu	37	17	10227551	10227551	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:10227551G>A	ENST00000418404.3	-	22	2885	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	MYH13_ENST00000252172.4_Missense_Mutation_p.R908W|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	908					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCACACCGTTCCTCAGCG	0.428																																							0											0													127.0	117.0	120.0					17																	10227551		1964	4162	6126	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2722C>T	17.37:g.10227551G>A	ENSP00000404570:p.Arg908Trp		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R908W	ENST00000418404.3	37	c.2722	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727357	0.69074	.	.	ENSG00000006788	ENST00000252172	D	0.94457	-3.43	4.37	1.01	0.19927	.	.	.	.	.	D	0.97551	0.9198	H	0.97896	4.1	0.39144	D	0.962099	D	0.89917	1.0	D	0.87578	0.998	D	0.94638	0.7828	9	0.87932	D	0	.	2.7277	0.05218	0.0976:0.1235:0.4202:0.3587	.	908	Q9UKX3	MYH13_HUMAN	W	908	ENSP00000252172:R908W	ENSP00000252172:R908W	R	-	1	2	MYH13	10168276	1.000000	0.71417	0.254000	0.24359	0.980000	0.70556	3.751000	0.55165	0.570000	0.29347	0.655000	0.94253	CGG	0	NULL		0.428	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	69	267	0	0.00	0	0	G	NM_003802	0	0		10227551	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	36	210	18.18	30.92	8	94	SNP	1	A
SCO1	6341	genome.wustl.edu	37	17	10595204	10595204	+	Missense_Mutation	SNP	C	C	T	rs145764824		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:10595204C>T	ENST00000255390.5	-	4	700	c.640G>A	c.(640-642)Gca>Aca	p.A214T	SCO1_ENST00000577427.1_Missense_Mutation_p.A183T|SCO1_ENST00000582053.1_5'Flank	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	214					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						ACATAATTTGCGATGGCTTCT	0.348																																					Melanoma(128;591 1731 19711 31891 44645)		0											0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	89.0	87.0	88.0		640	5.5	0.9	17	dbSNP_134	88	0,8600		0,0,4300	no	missense	SCO1	NM_004589.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	214/302	10595204	1,13005	2203	4300	6503	SO:0001583	missense	0			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.640G>A	17.37:g.10595204C>T	ENSP00000255390:p.Ala214Thr		B2RDM0	Missense_Mutation	SNP	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.A214T	ENST00000255390.5	37	c.640	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854762	0.91355	2.27E-4	0.0	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.94046	-3.34	5.5	5.5	0.81552	Thioredoxin-like fold (2);	0.047675	0.85682	D	0.000000	D	0.96125	0.8737	M	0.77406	2.37	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.63877	0.919;0.889	D	0.94734	0.7912	10	0.33141	T	0.24	-23.1032	17.7704	0.88490	0.0:1.0:0.0:0.0	.	183;214	A8MY34;O75880	.;SCO1_HUMAN	T	214;183	ENSP00000255390:A214T	ENSP00000255390:A214T	A	-	1	0	SCO1	10535929	0.996000	0.38824	0.949000	0.38748	0.919000	0.55068	3.916000	0.56416	2.854000	0.98071	0.655000	0.94253	GCA	0	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.348	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	protein_coding	OTTHUMT00000252729.2	82	267	0	0.37	0	1	C	NM_004589	rs145764824	C->T		10595204	-1	no_errors	ENST00000255390	ensembl	human	known	74_37	missense	49	194	26.87	28.15	18	76	SNP	1	T
ZNF286A	57335	genome.wustl.edu	37	17	15619437	15619437	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:15619437A>G	ENST00000464847.2	+	5	952	c.399A>G	c.(397-399)tcA>tcG	p.S133S	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.S133S|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.S133S|ZNF286A_ENST00000413242.2_Silent_p.S133S|ZNF286A_ENST00000593105.1_Silent_p.S123S			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAGCAGAATCATGCAAAGTTG	0.393																																							0											0													48.0	47.0	48.0					17																	15619437		2199	4285	6484	SO:0001819	synonymous_variant	0			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.399A>G	17.37:g.15619437A>G			B4DKF9|Q96JF3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S133	ENST00000464847.2	37	c.399	CCDS11172.1	17																																																																																			0	NULL		0.393	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286A	protein_coding	OTTHUMT00000130696.4	83	121	0	0.00	0	0	A	NM_020652	0	0		15619437	1	no_errors	ENST00000413242	ensembl	human	known	74_37	silent	53	124	26.39	28.32	19	49	SNP	0.005	G
SREBF1	6720	genome.wustl.edu	37	17	17726853	17726853	+	Intron	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:17726853C>A	ENST00000261646.5	-	2	276				SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000355815.4_Missense_Mutation_p.A54S|SREBF1_ENST00000435530.2_Intron	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1						aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CAATCCATGGCTCCGCGATCT	0.632																																							0											0													53.0	58.0	57.0					17																	17726853		2203	4300	6503	SO:0001627	intron_variant	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.92-3018G>T	17.37:g.17726853C>A			B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A54S	ENST00000261646.5	37	c.160	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.77|12.77	2.036336|2.036336	0.35893|0.35893	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000355815|ENST00000395751	T|.	0.52526|.	0.66|.	3.15|3.15	1.13|1.13	0.20643|0.20643	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.28333|0.28333	0.0700|0.0700	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.28971|.	0.229|.	B|.	0.32211|.	0.142|.	T|T	0.03112|0.03112	-1.1071|-1.1071	10|5	0.40728|.	T|.	0.16|.	-4.4799|-4.4799	5.2942|5.2942	0.15743|0.15743	0.0:0.6152:0.0:0.3847|0.0:0.6152:0.0:0.3847	.|.	54|.	P36956-4|.	.|.	S|I	54|31	ENSP00000348069:A54S|.	ENSP00000348069:A54S|.	A|S	-|-	1|2	0|0	SREBF1|SREBF1	17667578|17667578	0.366000|0.366000	0.25014|0.25014	0.969000|0.969000	0.41365|0.41365	0.753000|0.753000	0.42808|0.42808	0.186000|0.186000	0.16978|0.16978	0.365000|0.365000	0.24400|0.24400	0.462000|0.462000	0.41574|0.41574	GCC|AGC	0	NULL		0.632	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	protein_coding	OTTHUMT00000131771.1	128	134	0	0.00	0	0	C	NM_004176	0	0		17726853	-1	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	67	106	26.37	24.82	24	35	SNP	0.973	A
LGALS9C	654346	genome.wustl.edu	37	17	18396087	18396087	+	Missense_Mutation	SNP	C	C	T	rs199959851		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:18396087C>T	ENST00000328114.6	+	10	919	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192C|LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247C	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	280	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						TGCTGTGGTCCGTAACACCCA	0.587													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21766	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													59.0	36.0	44.0					17																	18396087		2194	4194	6388	SO:0001583	missense	0				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.838C>T	17.37:g.18396087C>T	ENSP00000329932:p.Arg280Cys		B0AZM7	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.R280C	ENST00000328114.6	37	c.838	CCDS32587.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.24	1.877143	0.33162	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.12984	2.63;2.63	2.26	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.54863	1.705	0.58432	D	0.99999	D	0.89917	1.0	D	0.79108	0.992	T	0.01093	-1.1454	10	0.41790	T	0.15	.	7.1797	0.25765	0.0:0.8496:0.0:0.1504	.	280	Q6DKI2	LEG9C_HUMAN	C	192;280	ENSP00000390286:R192C;ENSP00000329932:R280C	ENSP00000329932:R280C	R	+	1	0	LGALS9C	18336812	0.737000	0.28175	0.994000	0.49952	0.376000	0.30014	1.183000	0.32041	0.515000	0.28320	0.184000	0.17185	CGT	0	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.587	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LGALS9C	protein_coding	OTTHUMT00000131456.2	33	15	0	0.00	0	0	C	NM_001040078	rs199959851	C->T		18396087	1	no_errors	ENST00000328114	ensembl	human	known	74_37	missense	10	8	56.52	55.56	13	10	SNP	0.999	T
TRIM16L	147166	genome.wustl.edu	37	17	18638283	18638283	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:18638283A>T	ENST00000449552.2	+	7	2041	c.557A>T	c.(556-558)gAg>gTg	p.E186V	TRIM16L_ENST00000414850.2_Missense_Mutation_p.S99C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.E186V|TRIM16L_ENST00000572555.1_Missense_Mutation_p.E186V|TRIM16L_ENST00000395671.4_Missense_Mutation_p.E186V|TRIM16L_ENST00000571708.1_Missense_Mutation_p.E186V|TRIM16L_ENST00000395902.3_Missense_Mutation_p.E240V			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	186	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						ACGCCCTGGGAGCATCCCTAC	0.592																																							0											0													35.0	32.0	33.0					17																	18638283		2202	4283	6485	SO:0001583	missense	0			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.557A>T	17.37:g.18638283A>T	ENSP00000461386:p.Glu186Val		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	p.E240V	ENST00000449552.2	37	c.719	CCDS32588.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.051|9.051	0.992188|0.992188	0.18966|0.18966	.|.	.|.	ENSG00000108448|ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671|ENST00000414850	T;T;T|.	0.68181|.	-0.31;-0.31;-0.31|.	3.54|3.54	3.54|3.54	0.40534|0.40534	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);|.	0.140195|.	0.47455|.	U|.	0.000226|.	T|T	0.48768|0.48768	0.1518|0.1518	N|N	0.25890|0.25890	0.77|0.77	0.37517|0.37517	D|D	0.917367|0.917367	D;D;D|D	0.76494|0.65815	0.999;0.999;0.999|0.995	D;D;D|P	0.74674|0.52909	0.971;0.969;0.984|0.713	T|T	0.57717|0.57717	-0.7763|-0.7763	10|8	0.45353|0.87932	T|D	0.12|0	-9.6922|-9.6922	10.1008|10.1008	0.42504|0.42504	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	240;402;186|99	B4DE22;B3KMJ2;Q309B1|B4DWQ8	.;.;TR16L_HUMAN|.	V|C	240;186;186|99	ENSP00000379239:E240V;ENSP00000379031:E186V;ENSP00000379030:E186V|.	ENSP00000379030:E186V|ENSP00000403648:S99C	E|S	+|+	2|1	0|0	TRIM16L|TRIM16L	18579008|18579008	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.390000|0.390000	0.30446|0.30446	6.401000|6.401000	0.73256|0.73256	1.480000|1.480000	0.48289|0.48289	0.163000|0.163000	0.16589|0.16589	GAG|AGC	0	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY		0.592	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	protein_coding	OTTHUMT00000130670.3	53	125	0	0.00	0	0	A	NM_001037330	0	0		18638283	1	no_errors	ENST00000395902	ensembl	human	known	74_37	missense	31	157	13.89	8.72	5	15	SNP	1	T
SLC47A2	146802	genome.wustl.edu	37	17	19582127	19582127	+	Missense_Mutation	SNP	C	C	T	rs113234335		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:19582127C>T	ENST00000325411.5	-	17	1731	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Missense_Mutation_p.A539T	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	561					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GCTGAAAGGGCGTGGGCCTCC	0.597																																							0											0													56.0	49.0	51.0					17																	19582127		2203	4300	6503	SO:0001583	missense	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1681G>A	17.37:g.19582127C>T	ENSP00000326671:p.Ala561Thr		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.A561T	ENST00000325411.5	37	c.1681	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	C	4.139	0.024151	0.08006	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.31247	1.5;1.51	4.44	-0.778	0.10977	.	1.370640	0.04957	N	0.461334	T	0.25568	0.0622	L	0.44542	1.39	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.001	B;B;B	0.12837	0.008;0.002;0.002	T	0.28106	-1.0054	10	0.22109	T	0.4	-0.0969	8.396	0.32557	0.0:0.6663:0.1343:0.1994	.	525;539;561	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	T	539;561	ENSP00000338084:A539T;ENSP00000326671:A561T	ENSP00000326671:A561T	A	-	1	0	SLC47A2	19522719	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.582000	0.00905	0.007000	0.14760	-1.475000	0.01000	GCC	0	NULL		0.597	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	protein_coding	OTTHUMT00000132242.2	42	140	0	0.00	0	0	C	NM_152908	rs113234335	C->T		19582127	-1	no_errors	ENST00000325411	ensembl	human	known	74_37	missense	28	109	33.33	18.66	14	25	SNP	0	T
FAM27L	284123	genome.wustl.edu	37	17	21825494	21825494	+	lincRNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:21825494G>A	ENST00000426869.3	+	0	198					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		gaaatgggccgactaggatga	0.647																																							0											0													59.0	67.0	65.0					17																	21825494		1969	4162	6131			0			BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825494G>A				RNA	SNP	0	NULL	ENST00000426869.3	37	NULL		17																																																																																			0	0		0.647	FAM27L-001	KNOWN	basic	lincRNA	FAM27L	lincRNA	OTTHUMT00000389059.2	52	42	1.89	0.00	1	0	G	NM_203392	0	0		21825494	1	no_errors	ENST00000426869	ensembl	human	known	74_37	rna	27	46	28.95	29.23	11	19	SNP	0.004	A
NLK	51701	genome.wustl.edu	37	17	26370220	26370220	+	Silent	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:26370220A>T	ENST00000407008.3	+	1	1039	c.321A>T	c.(319-321)gcA>gcT	p.A107A	NLK_ENST00000583517.1_3'UTR|NLK_ENST00000582037.1_Silent_p.A107A	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	107	Poly-Ala.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GACCAGCTGCAGCAGCCCCAG	0.617																																							0											0													110.0	91.0	97.0					17																	26370220		2203	4300	6503	SO:0001819	synonymous_variant	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.321A>T	17.37:g.26370220A>T			B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A107	ENST00000407008.3	37	c.321	CCDS11224.2	17																																																																																			0	NULL		0.617	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	protein_coding	OTTHUMT00000255607.3	141	53	0	0.00	0	0	A	NM_016231	0	0		26370220	1	no_errors	ENST00000407008	ensembl	human	known	74_37	silent	78	43	33.9	33.85	40	22	SNP	0.979	T
KIAA0100	9703	genome.wustl.edu	37	17	26961698	26961698	+	Silent	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:26961698T>C	ENST00000528896.2	-	16	2981	c.2907A>G	c.(2905-2907)gcA>gcG	p.A969A	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.A826A|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.A826A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	969						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTTCTAGCCCTGCTAAGCTCC	0.537																																							0											0													111.0	111.0	111.0					17																	26961698		2203	4300	6503	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2907A>G	17.37:g.26961698T>C			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.A969	ENST00000528896.2	37	c.2907	CCDS32595.1	17																																																																																			0	NULL		0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	protein_coding	OTTHUMT00000390571.3	38	98	0	0.00	0	0	T	NM_014680	0	0		26961698	-1	no_errors	ENST00000528896	ensembl	human	known	74_37	silent	24	73	33.33	35.96	12	41	SNP	0.969	C
CRYBA1	1411	genome.wustl.edu	37	17	27580800	27580800	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:27580800C>T	ENST00000225387.3	+	5	501	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	167	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CAAAGTGGGGCGTAAGTACAA	0.433																																							0											0													68.0	67.0	67.0					17																	27580800		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.500+1C>T	17.37:g.27580800C>T			Q13633|Q14CM9	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.A167V	ENST00000225387.3	37	c.500	CCDS11249.1	17	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859398	0.91433	.	.	ENSG00000108255	ENST00000225387	T	0.75938	-0.98	5.43	3.42	0.39159	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.202386	0.51477	D	0.000086	D	0.82332	0.5014	M	0.69463	2.115	0.58432	D	0.999998	D	0.89917	1.0	D	0.72982	0.979	T	0.81161	-0.1059	10	0.36615	T	0.2	.	11.9361	0.52874	0.0:0.854:0.0:0.146	.	167	P05813	CRBA1_HUMAN	V	167	ENSP00000225387:A167V	ENSP00000225387:A167V	A	+	2	0	CRYBA1	24604926	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	5.686000	0.68211	1.290000	0.44636	0.491000	0.48974	GCC	0	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.433	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA1	protein_coding	OTTHUMT00000256071.2	106	307	0	0.65	0	2	C	NM_005208	0	0	Missense_Mutation	27580800	1	no_errors	ENST00000225387	ensembl	human	known	74_37	missense	73	241	23.71	27.33	23	91	SNP	1	T
ERBB2	2064	genome.wustl.edu	37	17	37881075	37881075	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:37881075C>T	ENST00000269571.5	+	20	2563	c.2404C>T	c.(2404-2406)Ccc>Tcc	p.P802S	ERBB2_ENST00000445658.2_Missense_Mutation_p.P526S|ERBB2_ENST00000540147.1_Missense_Mutation_p.P772S|ERBB2_ENST00000584601.1_Missense_Mutation_p.P772S|ERBB2_ENST00000406381.2_Missense_Mutation_p.P772S|ERBB2_ENST00000584450.1_Missense_Mutation_p.P802S|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.P787S			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACAGCTTATGCCCTATGGCTG	0.592		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																													0		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													78.0	72.0	74.0					17																	37881075		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2404C>T	17.37:g.37881075C>T	ENSP00000269571:p.Pro802Ser		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P802S	ENST00000269571.5	37	c.2404	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771829	0.49680	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70404	0.3220	L	0.31120	0.905	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;P;D	0.68353	0.957;0.803;0.957	T	0.73649	-0.3916	9	0.66056	D	0.02	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	526;787;802	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	S	772;787;526;802;772	ENSP00000385185:P772S;ENSP00000446466:P787S;ENSP00000404047:P526S;ENSP00000269571:P802S;ENSP00000443562:P772S	ENSP00000269571:P802S	P	+	1	0	ERBB2	35134601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.051000	0.71072	2.478000	0.83669	0.563000	0.77884	CCC	0	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	protein_coding	OTTHUMT00000445621.2	52	90	0	0.00	0	0	C		0	0		37881075	1	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	43	87	14	13.00	7	13	SNP	1	T
KRT17	3872	genome.wustl.edu	37	17	39775850	39775850	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:39775850C>T	ENST00000311208.8	-	8	1362	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	JUP_ENST00000540235.1_Missense_Mutation_p.R591H	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	432	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GAGTCCTCAGCGGGTGGTCTG	0.677																																					Pancreas(92;1242 2086 39193 50508)		0											0													72.0	76.0	75.0					17																	39775850		2203	4300	6503	SO:0001583	missense	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1295G>A	17.37:g.39775850C>T	ENSP00000308452:p.Arg432His		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.R591H	ENST00000311208.8	37	c.1772	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279646	0.59758	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;T	0.82711	-1.64;-1.4	4.44	-4.64	0.03349	.	0.959820	0.08524	N	0.933015	T	0.62392	0.2424	N	0.08118	0	0.21147	N	0.999773	B	0.15930	0.015	B	0.10450	0.005	T	0.49781	-0.8903	10	0.87932	D	0	.	5.5203	0.16929	0.1298:0.3974:0.0:0.4728	.	432	Q04695	K1C17_HUMAN	H	432;591	ENSP00000308452:R432H;ENSP00000441751:R591H	ENSP00000441751:R591H	R	-	2	0	JUP;KRT17	37029376	0.202000	0.23423	0.062000	0.19696	0.418000	0.31294	-1.129000	0.03244	-1.161000	0.02800	-0.448000	0.05591	CGC	0	NULL		0.677	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	protein_coding	OTTHUMT00000257460.1	96	17	0	0.00	0	0	C	NM_000422	0	0		39775850	-1	no_errors	ENST00000540235	ensembl	human	known	74_37	missense	55	5	22.54	50.00	16	5	SNP	0.762	T
DNAJC7	7266	genome.wustl.edu	37	17	40146920	40146920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40146920C>A	ENST00000457167.4	-	5	684	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	DNAJC7_ENST00000316603.7_Nonsense_Mutation_p.E94*|DNAJC7_ENST00000426588.3_Nonsense_Mutation_p.E94*	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	150					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AAATCTGTTTCTGCTATTTTC	0.388																																					Colon(63;618 1117 8600 10857 19751)		0											0													124.0	114.0	117.0					17																	40146920		1851	4090	5941	SO:0001587	stop_gained	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.448G>T	17.37:g.40146920C>A	ENSP00000406463:p.Glu150*		Q7Z784	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E150*	ENST00000457167.4	37	c.448	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.692282	0.96793	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	.	.	.	5.23	5.23	0.72850	.	0.090132	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	0.4593	19.1405	0.93444	0.0:1.0:0.0:0.0	.	.	.	.	X	150;94;94	.	ENSP00000313311:E94X	E	-	1	0	DNAJC7	37400446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.604000	0.88044	0.585000	0.79938	GAA	0	pfscan_TPR-contain_dom		0.388	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	protein_coding	OTTHUMT00000453366.2	70	245	0	0.00	0	0	C		0	0		40146920	-1	no_errors	ENST00000457167	ensembl	human	known	74_37	nonsense	38	205	30.91	34.71	17	109	SNP	1	A
NKIRAS2	28511	genome.wustl.edu	37	17	40174435	40174435	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40174435C>T	ENST00000307641.5	+	3	734	c.113C>T	c.(112-114)aCg>aTg	p.T38M	NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.T36M|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.T38M|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.T38M|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.T38M|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.T38M|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.T38M|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.T38M	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	38	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				ATGATCGAGACGCAGGAGGAC	0.537																																							0											0													55.0	53.0	53.0					17																	40174435		2203	4300	6503	SO:0001583	missense	0			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.113C>T	17.37:g.40174435C>T	ENSP00000303580:p.Thr38Met		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T38M	ENST00000307641.5	37	c.113	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480306	0.84747	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-1.96;-2.33;-2.33;-2.33;-1.96	5.53	4.56	0.56223	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.97321	0.9944	10	0.87932	D	0	-15.0586	14.8786	0.70513	0.0:0.9307:0.0:0.0693	.	38;38;38	B4DNM3;E9PAZ8;Q9NYR9	.;.;KBRS2_HUMAN	M	38;36;38;38;38;38;38;38	ENSP00000303580:T38M;ENSP00000377462:T36M;ENSP00000401976:T38M;ENSP00000377458:T38M;ENSP00000377459:T38M;ENSP00000377463:T38M;ENSP00000312773:T38M	ENSP00000303580:T38M	T	+	2	0	NKIRAS2	37427961	1.000000	0.71417	0.837000	0.33122	0.930000	0.56654	7.818000	0.86416	1.484000	0.48361	0.585000	0.79938	ACG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom		0.537	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NKIRAS2	protein_coding	OTTHUMT00000257457.1	30	137	0	0.00	0	0	C	NM_017595	0	0		40174435	1	no_errors	ENST00000307641	ensembl	human	known	74_37	missense	13	106	43.48	26.90	10	39	SNP	1	T
DHX58	79132	genome.wustl.edu	37	17	40262881	40262881	+	Missense_Mutation	SNP	C	C	T	rs150385537		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40262881C>T	ENST00000251642.3	-	5	643	c.421G>A	c.(421-423)Gtc>Atc	p.V141I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	141	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTTGTAGACGGTGTCCTTG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19933	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0								C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	187.0	160.0	169.0		421	2.8	0.8	17	dbSNP_134	169	0,8600		0,0,4300	no	missense	DHX58	NM_024119.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	141/679	40262881	2,13004	2203	4300	6503	SO:0001583	missense	0			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.421G>A	17.37:g.40262881C>T	ENSP00000251642:p.Val141Ile		Q9HAM6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V141I	ENST00000251642.3	37	c.421	CCDS11416.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.06	2.722502	0.48728	4.54E-4	0.0	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196;ENST00000430773	T;T;T	0.35421	1.31;1.31;1.31	4.79	2.76	0.32466	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.240029	0.33364	N	0.004984	T	0.21962	0.0529	L	0.31476	0.935	0.39481	D	0.967898	P;P	0.44195	0.635;0.828	B;B	0.35770	0.141;0.21	T	0.03335	-1.1047	10	0.33940	T	0.23	.	10.2016	0.43087	0.0:0.8348:0.0:0.1652	.	134;141	B7Z455;Q96C10	.;DHX58_HUMAN	I	141;104;141;141	ENSP00000251642:V141I;ENSP00000416389:V141I;ENSP00000404639:V141I	ENSP00000251642:V141I	V	-	1	0	DHX58	37516407	0.949000	0.32298	0.849000	0.33467	0.873000	0.50193	2.176000	0.42500	0.424000	0.26061	0.555000	0.69702	GTC	0	pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.587	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	protein_coding	OTTHUMT00000257396.1	28	143	0	0.00	0	0	C	NM_024119	rs150385537	C->T		40262881	-1	no_errors	ENST00000251642	ensembl	human	known	74_37	missense	14	92	39.13	34.29	9	48	SNP	0.995	T
STAT5B	6777	genome.wustl.edu	37	17	40369192	40369192	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40369192C>A	ENST00000293328.3	-	11	1534	c.1366G>T	c.(1366-1368)Gtt>Ttt	p.V456F		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	456					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTTGAAAAACCAGCTCATTT	0.428																																							0											0													70.0	61.0	64.0					17																	40369192		2203	4300	6503	SO:0001583	missense	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1366G>T	17.37:g.40369192C>A	ENSP00000293328:p.Val456Phe		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V456F	ENST00000293328.3	37	c.1366	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006365	0.93287	.	.	ENSG00000173757	ENST00000293328	D	0.87650	-2.28	4.88	4.88	0.63580	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.115611	0.64402	D	0.000020	D	0.93543	0.7939	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.94435	0.7653	10	0.87932	D	0	-5.2986	18.2148	0.89881	0.0:1.0:0.0:0.0	.	456	P51692	STA5B_HUMAN	F	456	ENSP00000293328:V456F	ENSP00000293328:V456F	V	-	1	0	STAT5B	37622718	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.539000	0.82063	2.532000	0.85374	0.561000	0.74099	GTT	0	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.428	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	protein_coding	OTTHUMT00000319797.1	76	293	0	0.00	0	0	C	NM_012448	0	0		40369192	-1	no_errors	ENST00000293328	ensembl	human	known	74_37	missense	40	218	29.82	30.13	17	94	SNP	1	A
TUBG2	27175	genome.wustl.edu	37	17	40815025	40815025	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:40815025C>T	ENST00000251412.7	+	5	633	c.434C>T	c.(433-435)aCg>aTg	p.T145M		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	145					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCTGGGGGTACGGGTTCTGGC	0.522																																							0											0													122.0	107.0	112.0					17																	40815025		2203	4300	6503	SO:0001583	missense	0			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.434C>T	17.37:g.40815025C>T	ENSP00000251412:p.Thr145Met		A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.T145M	ENST00000251412.7	37	c.434	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685610	0.88639	.	.	ENSG00000037042	ENST00000251412	D	0.82711	-1.64	4.85	4.85	0.62838	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	H	0.99815	4.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98417	1.0575	10	0.87932	D	0	-15.0764	18.3064	0.90184	0.0:1.0:0.0:0.0	.	145	Q9NRH3	TBG2_HUMAN	M	145	ENSP00000251412:T145M	ENSP00000251412:T145M	T	+	2	0	TUBG2	38068551	1.000000	0.71417	0.695000	0.30226	0.933000	0.57130	7.250000	0.78287	2.410000	0.81850	0.655000	0.94253	ACG	0	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.522	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	protein_coding	OTTHUMT00000452326.1	33	155	0	0.00	0	0	C	NM_016437	0	0		40815025	1	no_errors	ENST00000251412	ensembl	human	known	74_37	missense	12	134	36.84	28.72	7	54	SNP	0.994	T
CDC27	996	genome.wustl.edu	37	17	45234694	45234694	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:45234694T>C	ENST00000066544.3	-	6	625	c.532A>G	c.(532-534)Aac>Gac	p.N178D	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Missense_Mutation_p.N178D|CDC27_ENST00000446365.2_Missense_Mutation_p.N117D|CDC27_ENST00000531206.1_Missense_Mutation_p.N178D	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	178					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGCAGACAGTTGCTAAAGTTC	0.398																																							0											0													75.0	76.0	75.0					17																	45234694		2203	4298	6501	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.532A>G	17.37:g.45234694T>C	ENSP00000066544:p.Asn178Asp		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N178D	ENST00000066544.3	37	c.532	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236980	0.22711	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66638	-0.22;-0.19;0.09;-0.22;0.93	5.39	5.39	0.77823	.	0.491584	0.24657	N	0.036675	T	0.44414	0.1292	N	0.08118	0	0.26707	N	0.971046	B;B;B;B	0.12013	0.005;0.001;0.003;0.001	B;B;B;B	0.12837	0.004;0.008;0.006;0.005	T	0.17471	-1.0368	10	0.11794	T	0.64	-29.9827	13.3763	0.60741	0.0:0.0:0.0:1.0	.	117;178;178;178	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	D	178;178;117;178;178	ENSP00000066544:N178D;ENSP00000434614:N178D;ENSP00000392802:N117D;ENSP00000437339:N178D;ENSP00000432105:N178D	ENSP00000066544:N178D	N	-	1	0	CDC27	42589693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.136000	0.50554	2.053000	0.61076	0.528000	0.53228	AAC	0	NULL		0.398	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	protein_coding	OTTHUMT00000389742.2	49	61	0	0.00	0	0	T		0	0		45234694	-1	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	37	62	28.85	28.74	15	25	SNP	1	C
ITGB3	3690	genome.wustl.edu	37	17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A	rs370054364		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H|ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	63					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572																																							0											0								G	HIS/ARG	0,4406		0,0,2203	71.0	64.0	67.0		188	5.9	1.0	17		67	2,8598	1.2+/-3.3	0,2,4298	no	missense	ITGB3	NM_000212.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	63/789	45360742	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.188G>A	17.37:g.45360742G>A	ENSP00000452786:p.Arg63His		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R63H	ENST00000559488.1	37	c.188	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.198349	0.94997	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95788	-3.81	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98928	1.0786	10	0.87932	D	0	.	17.703	0.88301	0.0:0.0:1.0:0.0	.	63;63	P05106;Q2YFE1	ITB3_HUMAN;.	H	63;16	ENSP00000407801:R16H	ENSP00000262017:R63H	R	+	2	0	C17orf57	42715741	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.824000	0.99380	2.776000	0.95493	0.655000	0.94253	CGC	0	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N		0.572	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	protein_coding	OTTHUMT00000416111.3	41	112	0	0.88	0	1	G	NM_000212	rs370054364	G->A		45360742	1	no_errors	ENST00000559488	ensembl	human	known	74_37	missense	17	83	21.74	31.15	5	38	SNP	1	A
HOXB5	3215	genome.wustl.edu	37	17	46670666	46670666	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:46670666T>C	ENST00000239151.5	-	1	657	c.379A>G	c.(379-381)Agc>Ggc	p.S127G	HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000481995.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	127					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						AAATTGGCGCTGGAGCTGGCT	0.682																																							0											0													30.0	33.0	32.0					17																	46670666		2203	4300	6503	SO:0001583	missense	0				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.379A>G	17.37:g.46670666T>C	ENSP00000239151:p.Ser127Gly		B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S127G	ENST00000239151.5	37	c.379	CCDS11530.1	17	.	.	.	.	.	.	.	.	.	.	T	7.789	0.711099	0.15239	.	.	ENSG00000120075	ENST00000239151	D	0.92348	-3.02	5.31	5.31	0.75309	.	0.229368	0.51477	D	0.000092	D	0.88273	0.6392	L	0.54323	1.7	0.40882	D	0.984001	B	0.02656	0.0	B	0.04013	0.001	D	0.83477	0.0062	10	0.22109	T	0.4	.	10.2256	0.43222	0.0:0.0789:0.0:0.9211	.	127	P09067	HXB5_HUMAN	G	127	ENSP00000239151:S127G	ENSP00000239151:S127G	S	-	1	0	HOXB5	44025665	1.000000	0.71417	0.996000	0.52242	0.606000	0.37113	1.913000	0.39956	2.007000	0.58848	0.374000	0.22700	AGC	0	NULL		0.682	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB5	protein_coding	OTTHUMT00000358148.2	49	86	0	0.00	0	0	T		0	0		46670666	-1	no_errors	ENST00000239151	ensembl	human	known	74_37	missense	43	59	25.42	19.18	15	14	SNP	0.998	C
EPN3	55040	genome.wustl.edu	37	17	48613920	48613920	+	Start_Codon_SNP	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:48613920G>A	ENST00000268933.3	+	2	582	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.D84N	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	1						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CTCCAGCCATGACGACCTCCG	0.657																																							0											0													52.0	55.0	54.0					17																	48613920		2203	4300	6503	SO:0001582	initiator_codon_variant	0			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.3G>A	17.37:g.48613920G>A	ENSP00000268933:p.Met1Ile		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.D84N	ENST00000268933.3	37	c.250	CCDS11570.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.278629|5.278629	0.95459|0.95459	.|.	.|.	ENSG00000049283|ENSG00000049283	ENST00000442715;ENST00000537145|ENST00000268933;ENST00000503246;ENST00000503690;ENST00000514874;ENST00000515126;ENST00000507467;ENST00000411703	T|T;T;T	0.15603|0.43294	2.41|1.92;0.95;1.01	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.043248	.|0.85682	.|D	.|0.000000	T|T	0.62490|0.62490	0.2432|0.2432	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|P	0.76494|0.51653	0.999|0.947	D|P	0.68943|0.58577	0.961|0.841	T|T	0.66428|0.66428	-0.5926|-0.5926	8|9	0.02654|0.62326	T|D	1|0.03	-30.3667|-30.3667	18.2431|18.2431	0.89974|0.89974	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	84|1	F6QWW5|Q9H201	.|EPN3_HUMAN	N|I	84|1	ENSP00000439512:D84N|ENSP00000268933:M1I;ENSP00000426762:M1I;ENSP00000421515:M1I	ENSP00000408537:D84N|ENSP00000268933:M1I	D|M	+|+	1|3	0|0	EPN3|EPN3	45968919|45968919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	9.862000|9.862000	0.99564|0.99564	2.399000|2.399000	0.81585|0.81585	0.462000|0.462000	0.41574|0.41574	GAC|ATG	0	smart_Epsin-like_N,pfscan_Epsin-like_N		0.657	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	protein_coding	OTTHUMT00000367573.1	24	38	0	0.00	0	0	G	NM_017957	0	0	Missense_Mutation	48613920	1	no_errors	ENST00000537145	ensembl	human	known	74_37	missense	8	41	50	32.79	8	20	SNP	1	A
OR4D2	124538	genome.wustl.edu	37	17	56247089	56247089	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:56247089C>T	ENST00000545221.1	+	1	73	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGAGCTCCAGCGTTTCCTGTT	0.483																																							0											0													144.0	129.0	134.0					17																	56247089		2203	4300	6503	SO:0001583	missense	0				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.73C>T	17.37:g.56247089C>T	ENSP00000441354:p.Arg25Cys		Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R25C	ENST00000545221.1	37	c.73	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	C	9.787	1.176992	0.21787	.	.	ENSG00000255713	ENST00000545221	T	0.00433	7.43	5.4	-1.57	0.08506	.	1.541090	0.04006	N	0.297268	T	0.00271	0.0008	N	0.25485	0.75	0.26458	N	0.975496	P	0.46395	0.877	B	0.43331	0.416	T	0.35001	-0.9806	10	0.39692	T	0.17	-0.1619	1.4052	0.02279	0.1314:0.2623:0.3308:0.2755	.	25	P58180	OR4D2_HUMAN	C	25	ENSP00000441354:R25C	ENSP00000441354:R25C	R	+	1	0	OR4D2	53602088	0.000000	0.05858	0.844000	0.33320	0.030000	0.12068	-6.710000	0.00056	0.016000	0.14998	-0.466000	0.05196	CGT	0	NULL		0.483	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	protein_coding	OTTHUMT00000443366.1	42	210	0	0.00	0	0	C		0	0		56247089	1	no_errors	ENST00000545221	ensembl	human	known	74_37	missense	33	183	32.65	23.77	16	58	SNP	0.564	T
LPO	4025	genome.wustl.edu	37	17	56321401	56321401	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:56321401C>T	ENST00000262290.4	+	3	439	c.123C>T	c.(121-123)gcC>gcT	p.A41A	LPO_ENST00000582328.1_Intron|LPO_ENST00000543544.1_Intron|LPO_ENST00000421678.2_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	41					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGAGTCAGGCCAAGGTCCAAG	0.557																																							0											0													158.0	117.0	131.0					17																	56321401		2203	4300	6503	SO:0001819	synonymous_variant	0			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.123C>T	17.37:g.56321401C>T			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A41	ENST00000262290.4	37	c.123	CCDS32689.1	17																																																																																			0	NULL		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	protein_coding	OTTHUMT00000443961.1	30	95	0	0.00	0	0	C		0	0		56321401	1	no_errors	ENST00000262290	ensembl	human	known	74_37	silent	17	81	32	28.32	8	32	SNP	0.986	T
RAD51C	5889	genome.wustl.edu	37	17	56770051	56770051	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:56770051G>A	ENST00000337432.4	+	1	118	c.47G>A	c.(46-48)aGt>aAt	p.S16N	TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000487921.1_Intron|TEX14_ENST00000349033.5_5'Flank|RAD51C_ENST00000583539.1_Missense_Mutation_p.S16N|TEX14_ENST00000240361.8_5'Flank|RAD51C_ENST00000421782.2_Missense_Mutation_p.S16N	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	16	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATTTGGTGAGTTTCCCGCTG	0.612								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																														0											0													82.0	79.0	80.0					17																	56770051		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.47G>A	17.37:g.56770051G>A	ENSP00000336701:p.Ser16Asn		O43503|Q3B783	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.S16N	ENST00000337432.4	37	c.47	CCDS11611.1	17	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129259	0.56721	.	.	ENSG00000108384	ENST00000337432;ENST00000421782	T;T	0.45276	0.9;1.35	5.75	4.78	0.61160	.	0.386208	0.29737	N	0.011326	T	0.49133	0.1539	M	0.71581	2.175	0.38697	D	0.952895	P;P;P	0.41597	0.756;0.756;0.677	B;B;P	0.45428	0.138;0.398;0.48	T	0.54118	-0.8341	10	0.38643	T	0.18	-1.9841	13.3784	0.60752	0.0765:0.0:0.9235:0.0	.	7;16;16	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	N	16	ENSP00000336701:S16N;ENSP00000391450:S16N	ENSP00000336701:S16N	S	+	2	0	RAD51C	54125050	1.000000	0.71417	0.490000	0.27465	0.934000	0.57294	3.847000	0.55895	1.419000	0.47118	0.563000	0.77884	AGT	0	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.612	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD51C	protein_coding	OTTHUMT00000280540.2	29	130	0	0.00	0	0	G	NM_058216	0	0		56770051	1	no_errors	ENST00000337432	ensembl	human	known	74_37	missense	32	128	21.95	33.33	9	64	SNP	0.995	A
MRC2	9902	genome.wustl.edu	37	17	60743591	60743591	+	Silent	SNP	C	C	T	rs564657391		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:60743591C>T	ENST00000303375.5	+	3	1059	c.657C>T	c.(655-657)taC>taT	p.Y219Y		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	219	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.Y219Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCAGGACTACGGCAAAGACG	0.642																																							0											1	Substitution - coding silent(1)	large_intestine(1)											40.0	32.0	35.0					17																	60743591		2202	4298	6500	SO:0001819	synonymous_variant	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.657C>T	17.37:g.60743591C>T			A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.Y219	ENST00000303375.5	37	c.657	CCDS11634.1	17																																																																																			0	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd		0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	protein_coding	OTTHUMT00000445152.1	25	51	0	0.00	0	0	C		rs564657391	C->T		60743591	1	no_errors	ENST00000303375	ensembl	human	known	74_37	silent	19	29	36.67	32.56	11	14	SNP	0.398	T
TSEN54	283989	genome.wustl.edu	37	17	73518111	73518111	+	Missense_Mutation	SNP	G	G	A	rs201125812	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:73518111G>A	ENST00000333213.6	+	8	985	c.949G>A	c.(949-951)Gcc>Acc	p.A317T		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	317					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCTGCGCGCCCCAGCCCC	0.652																																							0.9996,.,0.0003994											0													12.0	12.0	12.0					17																	73518111		2182	4280	6462	SO:0001583	missense	0			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.949G>A	17.37:g.73518111G>A	ENSP00000327487:p.Ala317Thr		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.A317T	ENST00000333213.6	37	c.949	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270799	0.23221	.	.	ENSG00000182173	ENST00000333213	T	0.58060	0.36	5.24	5.24	0.73138	.	0.170208	0.52532	D	0.000075	T	0.47581	0.1453	M	0.68952	2.095	0.37613	D	0.920997	B	0.26547	0.152	B	0.15052	0.012	T	0.52801	-0.8527	10	0.40728	T	0.16	-8.068	9.6635	0.39969	0.0749:0.0:0.7828:0.1423	.	317	Q7Z6J9	SEN54_HUMAN	T	317	ENSP00000327487:A317T	ENSP00000327487:A317T	A	+	1	0	TSEN54	71029706	0.009000	0.17119	0.794000	0.32065	0.519000	0.34347	0.640000	0.24705	2.427000	0.82271	0.561000	0.74099	GCC	0	NULL		0.652	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	protein_coding	OTTHUMT00000447618.1	13	60	0	0.00	0	0	G	NM_207346	rs201125812	G->A,T		73518111	1	no_errors	ENST00000333213	ensembl	human	known	74_37	missense	10	53	23.08	20.90	3	14	SNP	0.716	A
TRIM65	201292	genome.wustl.edu	37	17	73888095	73888095	+	Missense_Mutation	SNP	C	C	T	rs140475639		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:73888095C>T	ENST00000269383.3	-	4	981	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	306						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCTTACCCACGGGGGCTAAG	0.682																																							0											0													11.0	13.0	12.0					17																	73888095		2117	4132	6249	SO:0001583	missense	0			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.916G>A	17.37:g.73888095C>T	ENSP00000269383:p.Val306Met		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V306M	ENST00000269383.3	37	c.916	CCDS11732.1	17	.	.	.	.	.	.	.	.	.	.	C	6.031	0.374152	0.11409	.	.	ENSG00000141569	ENST00000269383	T	0.57595	0.39	3.89	-7.79	0.01218	Concanavalin A-like lectin/glucanase (1);	1.618830	0.03658	N	0.242152	T	0.24890	0.0604	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.13176	-1.0519	10	0.42905	T	0.14	.	1.4092	0.02287	0.1759:0.2249:0.1743:0.425	.	306	Q6PJ69	TRI65_HUMAN	M	306	ENSP00000269383:V306M	ENSP00000269383:V306M	V	-	1	0	TRIM65	71399690	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-4.641000	0.00204	-2.618000	0.00441	-2.126000	0.00345	GTG	0	superfamily_ConA-like_lec_gl_sf		0.682	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM65	protein_coding	OTTHUMT00000255170.2	15	36	0	0.00	0	0	C	NM_173547	0	0		73888095	-1	no_errors	ENST00000269383	ensembl	human	known	74_37	missense	18	33	18.18	25.00	4	11	SNP	0	T
AFMID	125061	genome.wustl.edu	37	17	76202113	76202113	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:76202113G>T	ENST00000327898.5	+	10	891	c.882G>T	c.(880-882)aaG>aaT	p.K294N	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000409257.5_Missense_Mutation_p.K289N|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_3'UTR					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGACCCAGAAGGACAACGTGC	0.547																																							0											0													75.0	65.0	68.0					17																	76202113		2203	4300	6503	SO:0001583	missense	0			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.882G>T	17.37:g.76202113G>T	ENSP00000328938:p.Lys294Asn			Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.K294N	ENST00000327898.5	37	c.882	CCDS45801.1	17	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345165	0.05208	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	.	.	.	4.14	1.93	0.25924	.	0.740216	0.12771	N	0.440558	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.16396	0.01;0.017	B;B	0.12156	0.003;0.007	T	0.14035	-1.0487	9	0.27785	T	0.31	-3.7694	2.1118	0.03704	0.1155:0.1793:0.4939:0.2113	.	289;294	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	N	289;294	.	ENSP00000328938:K294N	K	+	3	2	AFMID	73713708	0.001000	0.12720	0.114000	0.21550	0.268000	0.26511	-0.322000	0.08007	0.933000	0.37291	0.561000	0.74099	AAG	0	NULL		0.547	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	protein_coding	OTTHUMT00000333203.1	30	156	0	0.00	0	0	G	XM_058889	0	0		76202113	1	no_errors	ENST00000327898	ensembl	human	known	74_37	missense	16	104	33.33	26.24	8	37	SNP	0.04	T
DNAH17	8632	genome.wustl.edu	37	17	76522783	76522783	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:76522783C>T	ENST00000585328.1	-	24	3776	c.3652G>A	c.(3652-3654)Gag>Aag	p.E1218K	DNAH17_ENST00000389840.5_Missense_Mutation_p.E1221K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1221	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACGGGGCCTCGCGCCTGAAC	0.587																																							0											0													47.0	50.0	49.0					17																	76522783		1967	4145	6112	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3652G>A	17.37:g.76522783C>T	ENSP00000465516:p.Glu1218Lys		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.E1221K	ENST00000585328.1	37	c.3661		17	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.896695	0.00522	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.21932	1.98	4.37	1.2	0.21068	.	.	.	.	.	T	0.13543	0.0328	L	0.33339	1.005	0.09310	N	1	.	.	.	.	.	.	T	0.35525	-0.9785	7	0.09338	T	0.73	.	7.0326	0.24975	0.0:0.6363:0.135:0.2287	.	.	.	.	K	1218;1221	ENSP00000374490:E1221K	ENSP00000300671:E1218K	E	-	1	0	DNAH17	74034378	0.056000	0.20664	0.027000	0.17364	0.008000	0.06430	0.616000	0.24344	0.340000	0.23745	-2.325000	0.00251	GAG	0	NULL		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	67	137	0	0.00	0	0	C	NM_173628	0	0		76522783	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	33	106	21.43	29.33	9	44	SNP	0.169	T
CCDC40	55036	genome.wustl.edu	37	17	78069070	78069070	+	Silent	SNP	C	C	T	rs573028412		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:78069070C>T	ENST00000397545.4	+	18	2868	c.2841C>T	c.(2839-2841)ctC>ctT	p.L947L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	947					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCAGGCTCGGGCAGCTGC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15878	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0													35.0	41.0	39.0					17																	78069070		2070	4187	6257	SO:0001819	synonymous_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2841C>T	17.37:g.78069070C>T			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.L947	ENST00000397545.4	37	c.2841	CCDS42395.1	17																																																																																			0	NULL		0.682	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	protein_coding	OTTHUMT00000256005.2	67	35	0	0.00	0	0	C	XM_371082	rs573028412	C->T		78069070	1	no_errors	ENST00000397545	ensembl	human	known	74_37	silent	43	40	25.86	23.08	15	12	SNP	0	T
RNF213	57674	genome.wustl.edu	37	17	78247137	78247137	+	Silent	SNP	G	G	A	rs370520790		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:78247137G>A	ENST00000582970.1	+	3	338	c.195G>A	c.(193-195)ccG>ccA	p.P65P	RNF213_ENST00000508628.2_Silent_p.P65P|RNF213_ENST00000319921.4_Silent_p.P65P|RNF213_ENST00000456466.1_Silent_p.P65P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	65					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTGTTCCCGGGCTCAGACA	0.612																																							0											0								G	,	1,4403	2.1+/-5.4	0,1,2201	74.0	72.0	73.0		195,195	-1.6	0.0	17		73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RNF213	NM_020914.4,NM_020954.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	65/5257,65/1064	78247137	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.195G>A	17.37:g.78247137G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P65	ENST00000582970.1	37	c.195	CCDS58606.1	17																																																																																			0	NULL		0.612	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	38	149	0	0.00	0	0	G	NM_020914	rs370520790	G->A		78247137	1	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	7	138	30	23.63	3	43	SNP	0	A
C17orf62	79415	genome.wustl.edu	37	17	80401910	80401910	+	Silent	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:80401910A>G	ENST00000437807.2	-	8	851	c.534T>C	c.(532-534)agT>agC	p.S178S	C17orf62_ENST00000577732.1_Silent_p.S178S|C17orf62_ENST00000585080.1_Silent_p.S178S|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_Silent_p.S178S|C17orf62_ENST00000434650.2_Silent_p.S164S|C17orf62_ENST00000577436.1_Silent_p.S164S|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000342572.8_Silent_p.S54S|C17orf62_ENST00000578919.1_Silent_p.S178S|C17orf62_ENST00000336995.7_Missense_Mutation_p.V30A|C17orf62_ENST00000585064.1_Silent_p.S178S	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	178						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CACCGGCCTCACTGTCGCTGC	0.647																																							0											0													107.0	102.0	104.0					17																	80401910		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.534T>C	17.37:g.80401910A>G			E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.V30A	ENST00000437807.2	37	c.89	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	A	8.282	0.815808	0.16607	.	.	ENSG00000178927	ENST00000342572;ENST00000536759;ENST00000336995	.	.	.	4.98	-3.63	0.04529	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.23421	N	0.997714	P	0.35745	0.518	B	0.39562	0.303	T	0.22695	-1.0209	7	0.26408	T	0.33	.	3.1105	0.06356	0.4214:0.1067:0.3574:0.1145	.	68	Q8NEZ9	.	A	68;35;30	.	ENSP00000337560:V30A	V	-	2	0	C17orf62	77995199	0.023000	0.18921	0.825000	0.32803	0.161000	0.22273	-1.204000	0.03017	-0.655000	0.05387	-0.441000	0.05720	GTG	0	NULL		0.647	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	protein_coding	OTTHUMT00000443260.1	41	48	0	0.00	0	0	A	NM_001033046	0	0		80401910	-1	no_errors	ENST00000336995	ensembl	human	known	74_37	missense	30	58	21.05	6.45	8	4	SNP	0.904	G
CXADRP3	440224	genome.wustl.edu	37	18	14478350	14478350	+	lincRNA	SNP	C	C	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:14478350C>G	ENST00000581457.1	-	0	1558					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TGGAAGGAGACATGGATTCCA	0.493																																							0											0																																												0					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478350C>G				RNA	SNP	0	NULL	ENST00000581457.1	37	NULL		18																																																																																			0	0		0.493	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	lincRNA	OTTHUMT00000443008.1	63	44	0	0.00	0	0	C	NR_024076	0	0		14478350	-1	no_errors	ENST00000581457	ensembl	human	known	74_37	rna	25	36	34.21	33.33	13	18	SNP	1	G
RBBP8	5932	genome.wustl.edu	37	18	20606151	20606151	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:20606151G>A	ENST00000399722.2	+	19	2993	c.2642G>A	c.(2641-2643)cGt>cAt	p.R881H	Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000581687.1_Missense_Mutation_p.R59H|RBBP8_ENST00000360790.5_Missense_Mutation_p.R886H|RBBP8_ENST00000399725.2_Missense_Mutation_p.V849I|RBBP8_ENST00000327155.5_Missense_Mutation_p.R881H	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	881					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CCAAAAAGACGTCAGCCTTAC	0.368								Homologous recombination																															0											0													124.0	110.0	115.0					18																	20606151		2203	4300	6503	SO:0001583	missense	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2642G>A	18.37:g.20606151G>A	ENSP00000382628:p.Arg881His		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.R881H	ENST00000399722.2	37	c.2642	CCDS11875.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.75|12.75	2.032951|2.032951	0.35893|0.35893	.|.	.|.	ENSG00000101773|ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790|ENST00000399725;ENST00000399721	T;T;T|T	0.46819|0.31510	0.86;0.86;0.87|1.49	5.64|5.64	3.84|3.84	0.44239|0.44239	.|.	0.169380|.	0.51477|.	D|.	0.000083|.	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.29908|0.29908	0.895|0.895	0.46222|0.46222	D|D	0.998932|0.998932	D;D|B	0.89917|0.32338	1.0;1.0|0.365	D;D|B	0.87578|0.21151	0.998;0.996|0.033	T|T	0.08391|0.08391	-1.0724|-1.0724	10|9	0.87932|0.87932	D|D	0|0	-2.7371|-2.7371	11.8352|11.8352	0.52319|0.52319	0.1442:0.0:0.8558:0.0|0.1442:0.0:0.8558:0.0	.|.	886;881|849	E7ETY1;Q99708|A6NKN2	.;COM1_HUMAN|.	H|I	881;881;886|849	ENSP00000323050:R881H;ENSP00000382628:R881H;ENSP00000354024:R886H|ENSP00000382630:V849I	ENSP00000323050:R881H|ENSP00000382627:V849I	R|V	+|+	2|1	0|0	RBBP8|RBBP8	18860149|18860149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	7.756000|7.756000	0.85195|0.85195	1.389000|1.389000	0.46526|0.46526	-0.140000|-0.140000	0.14226|0.14226	CGT|GTC	0	NULL		0.368	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	protein_coding	OTTHUMT00000446387.1	69	307	0	0.32	0	1	G	NM_203291	0	0		20606151	1	no_errors	ENST00000327155	ensembl	human	known	74_37	missense	36	236	25	25.24	12	80	SNP	1	A
ELAC1	55520	genome.wustl.edu	37	18	48500887	48500887	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:48500887G>T	ENST00000269466.3	+	2	220	c.113G>T	c.(112-114)gGg>gTg	p.G38V	SMAD4_ENST00000452201.2_5'UTR|ELAC1_ENST00000591429.1_Missense_Mutation_p.G38V|RP11-729L2.2_ENST00000588256.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.G38V|ELAC1_ENST00000588577.1_Missense_Mutation_p.G38V	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	38					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TTTGACTGTGGGGAGGGAACA	0.502																																							0											0													155.0	138.0	144.0					18																	48500887		2203	4300	6503	SO:0001583	missense	0			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.113G>T	18.37:g.48500887G>T	ENSP00000269466:p.Gly38Val		Q9NS99	Missense_Mutation	SNP	pfam_Beta-lactamas-like,tigrfam_RNase_Z	p.G38V	ENST00000269466.3	37	c.113	CCDS11949.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.081224	0.94050	.	.	ENSG00000141642	ENST00000269466	T	0.66995	-0.24	5.92	5.92	0.95590	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92150	0.5727	10	0.87932	D	0	.	19.1473	0.93473	0.0:0.0:1.0:0.0	.	38;38	Q53EY2;Q9H777	.;RNZ1_HUMAN	V	38	ENSP00000269466:G38V	ENSP00000269466:G38V	G	+	2	0	ELAC1	46754885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.410000	0.97335	2.826000	0.97356	0.650000	0.86243	GGG	0	pfam_Beta-lactamas-like,tigrfam_RNase_Z		0.502	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC1	protein_coding	OTTHUMT00000255992.2	87	202	0	0.98	0	2	G		0	0		48500887	1	no_errors	ENST00000269466	ensembl	human	known	74_37	missense	55	204	20	14.64	14	35	SNP	1	T
SALL3	27164	genome.wustl.edu	37	18	76755157	76755157	+	Missense_Mutation	SNP	G	G	A	rs139036373		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:76755157G>A	ENST00000537592.2	+	2	3166	c.3166G>A	c.(3166-3168)Gcc>Acc	p.A1056T	SALL3_ENST00000536229.3_Missense_Mutation_p.A851T|SALL3_ENST00000575389.2_Missense_Mutation_p.A984T	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1056					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GATCTCCAGCGCCGCACCCAC	0.607																																							0											0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	75.0	74.0	74.0		3166	-0.2	0.0	18	dbSNP_134	74	0,8600		0,0,4300	no	missense	SALL3	NM_171999.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1056/1301	76755157	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3166G>A	18.37:g.76755157G>A	ENSP00000441823:p.Ala1056Thr		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1056T	ENST00000537592.2	37	c.3166	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096948	0.08681	2.27E-4	0.0	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T;T	0.09630	2.96;3.16	4.97	-0.161	0.13371	.	0.654481	0.13133	N	0.411306	T	0.03053	0.0090	N	0.03608	-0.345	0.22435	N	0.999104	B;B	0.15473	0.013;0.001	B;B	0.08055	0.003;0.001	T	0.43507	-0.9387	10	0.13853	T	0.58	-8.7291	1.1853	0.01854	0.4501:0.1495:0.2579:0.1424	.	716;1056	F5GXY4;Q9BXA9	.;SALL3_HUMAN	T	1056;984;716	ENSP00000441823:A1056T;ENSP00000439975:A984T	ENSP00000299466:A1056T	A	+	1	0	SALL3	74856145	0.977000	0.34250	0.003000	0.11579	0.076000	0.17211	1.143000	0.31553	0.034000	0.15491	0.462000	0.41574	GCC	0	NULL		0.607	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	55	122	0	0.00	0	0	G	NM_171999	rs139036373	G->A		76755157	1	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	33	118	25	21.71	11	33	SNP	0.943	A
NFATC1	4772	genome.wustl.edu	37	18	77171098	77171098	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:77171098C>T	ENST00000427363.2	+	2	823	c.823C>T	c.(823-825)Ccg>Tcg	p.P275S	NFATC1_ENST00000586434.1_Missense_Mutation_p.P262S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P262S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P275S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P275S|NFATC1_ENST00000591814.1_Missense_Mutation_p.P275S|NFATC1_ENST00000329101.4_Missense_Mutation_p.P262S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.P275S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P262S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	275	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGGCCGGCAGCCGCCCTACTC	0.701																																					GBM(151;1210 2593 28719 45011)		0											0													18.0	19.0	19.0					18																	77171098		2169	4248	6417	SO:0001583	missense	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.823C>T	18.37:g.77171098C>T	ENSP00000389377:p.Pro275Ser		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.P275S	ENST00000427363.2	37	c.823		18	.	.	.	.	.	.	.	.	.	.	C	5.070	0.198564	0.09652	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.79554	-1.03;-1.03;-1.03;-1.28	4.66	1.47	0.22746	.	1.228140	0.05911	N	0.631736	T	0.65133	0.2662	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B;B	0.22983	0.078;0.078;0.045;0.064;0.064;0.066;0.078	B;B;B;B;B;B;B	0.21546	0.035;0.035;0.035;0.031;0.031;0.028;0.035	T	0.55483	-0.8134	10	0.02654	T	1	-14.5542	6.423	0.21754	0.3649:0.3764:0.2587:0.0	.	262;262;275;275;275;262;275	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	S	275;275;275;262;262;239	ENSP00000253506:P275S;ENSP00000442435:P275S;ENSP00000327850:P262S;ENSP00000389377:P262S	ENSP00000253506:P275S	P	+	1	0	NFATC1	75272086	0.005000	0.15991	0.800000	0.32199	0.421000	0.31385	0.037000	0.13840	0.537000	0.28751	-0.211000	0.12701	CCG	0	NULL		0.701	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	protein_coding	OTTHUMT00000450507.1	11	65	0	0.00	0	0	C	NM_172390	0	0		77171098	1	no_errors	ENST00000427363	ensembl	human	known	74_37	missense	11	50	15.38	30.56	2	22	SNP	0.982	T
REXO1	57455	genome.wustl.edu	37	19	1828492	1828492	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:1828492C>T	ENST00000170168.4	-	2	390	c.296G>A	c.(295-297)cGc>cAc	p.R99H	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	99						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTCACTGCGCACGGCCTC	0.751																																							0											0													20.0	20.0	20.0					19																	1828492		2201	4295	6496	SO:0001583	missense	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.296G>A	19.37:g.1828492C>T	ENSP00000170168:p.Arg99His		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.R99H	ENST00000170168.4	37	c.296	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329970	0.81690	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.20738	2.05	3.77	3.77	0.43336	.	0.310875	0.29100	N	0.013152	T	0.39279	0.1072	M	0.72894	2.215	0.38746	D	0.953998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.94	T	0.37549	-0.9701	10	0.66056	D	0.02	-27.9203	5.471	0.16670	0.0:0.7642:0.0:0.2358	.	53;99	F5H016;Q8N1G1	.;REXO1_HUMAN	H	99;53	ENSP00000170168:R99H	ENSP00000170168:R99H	R	-	2	0	REXO1	1779492	0.943000	0.32029	0.978000	0.43139	0.990000	0.78478	1.828000	0.39111	2.096000	0.63516	0.462000	0.41574	CGC	0	NULL		0.751	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	protein_coding	OTTHUMT00000449200.1	53	47	0	0.00	0	0	C	NM_020695	0	0		1828492	-1	no_errors	ENST00000170168	ensembl	human	known	74_37	missense	20	20	33.33	48.72	10	19	SNP	0.958	T
MOB3A	126308	genome.wustl.edu	37	19	2078278	2078278	+	Silent	SNP	G	G	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:2078278G>C	ENST00000357066.3	-	3	661	c.282C>G	c.(280-282)ggC>ggG	p.G94G	MOB3A_ENST00000592280.1_Silent_p.G94G|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	94						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.K96fs*3(1)									CATACTTGGGGCCCCCCGACA	0.612																																							0											1	Insertion - Frameshift(1)	large_intestine(1)											70.0	54.0	59.0					19																	2078278		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.282C>G	19.37:g.2078278G>C			B3KTF1|O75249|Q8TF69	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.G94	ENST00000357066.3	37	c.282	CCDS12081.1	19																																																																																			0	pfam_Mob1_phocein,superfamily_Mob1_phocein		0.612	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3A	protein_coding	OTTHUMT00000450893.1	68	90	0	0.00	0	0	G	NM_130807	0	0		2078278	-1	no_errors	ENST00000357066	ensembl	human	known	74_37	silent	44	99	34.33	27.74	23	38	SNP	0.999	C
TMPRSS9	360200	genome.wustl.edu	37	19	2421915	2421915	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:2421915G>A	ENST00000332578.3	+	13	2116	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	706	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGGGATCGTGAGCTGGGG	0.612																																							0											0													70.0	69.0	69.0					19																	2421915		2203	4300	6503	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2116G>A	19.37:g.2421915G>A	ENSP00000330264:p.Val706Met		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.V706M	ENST00000332578.3	37	c.2116	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523286	0.64747	.	.	ENSG00000178297	ENST00000332578	T	0.64618	-0.11	4.59	4.59	0.56863	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000105	D	0.84224	0.5425	H	0.94734	3.575	0.45762	D	0.998653	D	0.89917	1.0	D	0.74674	0.984	D	0.89328	0.3645	10	0.87932	D	0	.	15.9794	0.80094	0.0:0.0:1.0:0.0	.	706	Q7Z410	TMPS9_HUMAN	M	706	ENSP00000330264:V706M	ENSP00000330264:V706M	V	+	1	0	TMPRSS9	2372915	1.000000	0.71417	0.974000	0.42286	0.577000	0.36160	7.516000	0.81772	2.101000	0.63845	0.561000	0.74099	GTG	0	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.612	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	protein_coding	OTTHUMT00000451330.3	61	156	0	0.00	0	0	G	NM_182973	0	0		2421915	1	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	47	146	22.95	28.64	14	59	SNP	0.999	A
TBXA2R	6915	genome.wustl.edu	37	19	3595731	3595731	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:3595731C>T	ENST00000375190.4	-	3	1380	c.987G>A	c.(985-987)tcG>tcA	p.S329S	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A200T|TBXA2R_ENST00000411851.3_Intron	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	329					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GGAGGGACAGCGACCTGGGCC	0.706																																							0											0													13.0	17.0	16.0					19																	3595731		2117	4236	6353	SO:0001819	synonymous_variant	0				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.987G>A	19.37:g.3595731C>T			O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt	p.A200T	ENST00000375190.4	37	c.598	CCDS42467.1	19																																																																																			0	NULL		0.706	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	protein_coding	OTTHUMT00000453081.2	31	31	0	0.00	0	0	C		0	0		3595731	-1	no_errors	ENST00000589966	ensembl	human	putative	74_37	missense	20	17	28.57	46.88	8	15	SNP	0	T
MIR7-3HG	284424	genome.wustl.edu	37	19	4769629	4769629	+	lincRNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:4769629C>T	ENST00000586721.1	+	0	212				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		GAGGAGAATGCTATTTATTTC	0.557																																							0											0													35.0	37.0	37.0					19																	4769629		692	1591	2283			0			AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4769629C>T			D6W630|Q17RJ9|Q8N6C6	RNA	SNP	0	NULL	ENST00000586721.1	37	NULL		19																																																																																			0	0		0.557	MIR7-3HG-002	KNOWN	basic	lincRNA	MIR7-3HG	lincRNA	OTTHUMT00000459345.1	40	98	0	0.00	0	0	C	NR_027148	0	0		4769629	1	no_errors	ENST00000589639	ensembl	human	known	74_37	rna	19	108	40.62	29.41	13	45	SNP	0.004	T
SAFB	6294	genome.wustl.edu	37	19	5667070	5667070	+	Missense_Mutation	SNP	G	G	A	rs368894379		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:5667070G>A	ENST00000292123.5	+	18	2455	c.2348G>A	c.(2347-2349)cGc>cAc	p.R783H	SAFB_ENST00000433404.1_Missense_Mutation_p.R613H|SAFB_ENST00000592224.1_Missense_Mutation_p.R782H|SAFB_ENST00000588852.1_Missense_Mutation_p.R783H|SAFB_ENST00000538656.1_Missense_Mutation_p.R625H|SAFB_ENST00000454510.1_Missense_Mutation_p.R714H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	783	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TACCCAGAACGCCATGGAGGA	0.612																																					Colon(88;338 1345 6184 8214 20897)		0											0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	65.0	73.0	70.0		2348,2345,2141,2348	5.4	1.0	19		70	1,8595		0,1,4297	no	missense,missense,missense,missense	SAFB	NM_001201338.1,NM_001201339.1,NM_001201340.1,NM_002967.3	29,29,29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	783/918,782/917,714/849,783/916	5667070	1,13001	2203	4298	6501	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2348G>A	19.37:g.5667070G>A	ENSP00000292123:p.Arg783His		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R783H	ENST00000292123.5	37	c.2348	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741882	0.69304	0.0	1.16E-4	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.13420	2.66;2.83;2.59;2.62	5.4	5.4	0.78164	.	0.260386	0.27956	N	0.017166	T	0.34716	0.0907	L	0.55213	1.73	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.994;0.994;0.997;0.994;0.994;0.994;0.994	T	0.01232	-1.1411	10	0.59425	D	0.04	-17.8019	17.7057	0.88309	0.0:0.0:1.0:0.0	.	582;625;714;782;783;783;782	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	H	714;678;613;783;625	ENSP00000415895:R714H;ENSP00000404545:R613H;ENSP00000292123:R783H;ENSP00000438880:R625H	ENSP00000292123:R783H	R	+	2	0	SAFB	5618070	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	5.853000	0.69496	2.680000	0.91292	0.555000	0.69702	CGC	0	NULL		0.612	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	protein_coding	OTTHUMT00000451641.2	38	88	0	0.00	0	0	G		rs368894379	G->A		5667070	1	no_errors	ENST00000588852	ensembl	human	known	74_37	missense	38	78	20	30.70	10	35	SNP	1	A
MLLT1	4298	genome.wustl.edu	37	19	6262264	6262264	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:6262264G>T	ENST00000252674.7	-	3	414	c.251C>A	c.(250-252)cCc>cAc	p.P84H	CTC-503J8.4_ENST00000588192.1_RNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	84	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CACCTCGATGGGCATGATGAA	0.562			T	MLL	AL																																		0		Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	0													98.0	84.0	89.0					19																	6262264		2203	4300	6503	SO:0001583	missense	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.251C>A	19.37:g.6262264G>T	ENSP00000252674:p.Pro84His		Q14768	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.P84H	ENST00000252674.7	37	c.251	CCDS12160.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375095	0.82682	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.6	4.56	0.56223	.	0.056386	0.64402	D	0.000001	T	0.78149	0.4238	M	0.81942	2.565	0.58432	D	0.999999	D	0.71674	0.998	D	0.77004	0.989	T	0.80567	-0.1325	9	0.72032	D	0.01	-16.9594	11.408	0.49908	0.0895:0.0:0.9105:0.0	.	84	Q03111	ENL_HUMAN	H	84	.	ENSP00000252674:P84H	P	-	2	0	MLLT1	6213264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.870000	0.87175	1.339000	0.45563	0.561000	0.74099	CCC	0	pfam_YEATS,pfscan_YEATS		0.562	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	protein_coding	OTTHUMT00000452909.1	28	148	0	0.00	0	0	G	NM_005934	0	0		6262264	-1	no_errors	ENST00000252674	ensembl	human	known	74_37	missense	15	151	25	17.39	5	32	SNP	1	T
GTF2F1	2962	genome.wustl.edu	37	19	6387532	6387532	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:6387532G>A	ENST00000394456.5	-	5	829	c.365C>T	c.(364-366)aCg>aTg	p.T122M	GTF2F1_ENST00000429701.2_Intron|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	122					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GTAGTAGGACGTGTTCTCTGT	0.642																																							0											0													182.0	150.0	161.0					19																	6387532		2203	4300	6503	SO:0001583	missense	0				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.365C>T	19.37:g.6387532G>A	ENSP00000377969:p.Thr122Met		B2RCS0|Q9BWN0	Missense_Mutation	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.T122M	ENST00000394456.5	37	c.365	CCDS12165.1	19	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730402	0.89390	.	.	ENSG00000125651	ENST00000394456;ENST00000542045;ENST00000541263	T	0.46819	0.86	5.39	5.39	0.77823	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.061993	0.64402	D	0.000003	T	0.60945	0.2308	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.62812	-0.6775	10	0.62326	D	0.03	-39.3572	17.9226	0.88972	0.0:0.0:1.0:0.0	.	122	P35269	T2FA_HUMAN	M	122;182;122	ENSP00000377969:T122M	ENSP00000377969:T122M	T	-	2	0	GTF2F1	6338532	1.000000	0.71417	0.913000	0.36048	0.980000	0.70556	9.352000	0.97076	2.502000	0.84385	0.655000	0.94253	ACG	0	pfam_TFIIF-alpha,superfamily_TFIIF_interaction		0.642	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	protein_coding	OTTHUMT00000398033.1	41	165	0	0.00	0	0	G	NM_002096	0	0		6387532	-1	no_errors	ENST00000394456	ensembl	human	known	74_37	missense	13	99	23.53	32.65	4	48	SNP	1	A
ZNF358	140467	genome.wustl.edu	37	19	7585762	7585762	+	Missense_Mutation	SNP	G	G	A	rs116797831	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:7585762G>A	ENST00000597229.1	+	2	1804	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.S545N|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	545					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGCACTGTCAGCCCAGCCCTC	0.662																																							0											0													88.0	70.0	76.0					19																	7585762		2203	4300	6503	SO:0001583	missense	0			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1634G>A	19.37:g.7585762G>A	ENSP00000472305:p.Ser545Asn		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S545N	ENST00000597229.1	37	c.1634	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849262	0.51270	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07114	3.22	4.04	4.04	0.47022	.	.	.	.	.	T	0.07683	0.0193	N	0.24115	0.695	0.25094	N	0.990836	B	0.23650	0.089	B	0.18871	0.023	T	0.19484	-1.0304	9	0.66056	D	0.02	.	14.4919	0.67657	0.0:0.0:1.0:0.0	.	545	Q9NW07	ZN358_HUMAN	N	545	ENSP00000377873:S545N	ENSP00000354703:S545N	S	+	2	0	ZNF358	7491762	0.463000	0.25799	0.996000	0.52242	0.375000	0.29983	2.534000	0.45676	2.547000	0.85894	0.655000	0.94253	AGC	0	NULL		0.662	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	protein_coding	OTTHUMT00000316747.1	32	82	0	0.00	0	0	G		0	0		7585762	1	no_errors	ENST00000394341	ensembl	human	known	74_37	missense	14	81	46.15	33.06	12	40	SNP	0.755	A
PCP2	126006	genome.wustl.edu	37	19	7697344	7697344	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:7697344G>A	ENST00000311069.5	-	3	516	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	PCP2_ENST00000598935.1_Missense_Mutation_p.R60C|XAB2_ENST00000534844.1_5'Flank|CTD-3214H19.4_ENST00000595866.1_Intron|XAB2_ENST00000358368.4_5'Flank|CTD-3214H19.6_ENST00000601797.1_RNA	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	76	GoLoco 2. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						TCCATGCGGCGGCCCTGGGTA	0.632																																							0											0													82.0	81.0	81.0					19																	7697344		2203	4300	6503	SO:0001583	missense	0			BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.226C>T	19.37:g.7697344G>A	ENSP00000310585:p.Arg76Cys		M0R2R7|Q3KRG7	Missense_Mutation	SNP	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.R76C	ENST00000311069.5	37	c.226	CCDS32893.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199779	0.79015	.	.	ENSG00000174788	ENST00000311069	.	.	.	4.9	3.79	0.43588	GoLoco motif (3);	0.094449	0.40385	N	0.001116	T	0.68155	0.2970	M	0.78049	2.395	0.42012	D	0.990942	D	0.69078	0.997	P	0.55055	0.767	T	0.74067	-0.3784	9	0.87932	D	0	-17.409	11.1955	0.48711	0.0:0.0:0.8163:0.1837	.	76	Q8IVA1	PCP2_HUMAN	C	76	.	ENSP00000310585:R76C	R	-	1	0	PCP2	7603344	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.455000	0.44988	2.237000	0.73441	0.549000	0.68633	CGC	0	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif		0.632	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCP2	protein_coding	OTTHUMT00000461026.2	30	75	0	0.00	0	0	G	XM_058956	0	0		7697344	-1	no_errors	ENST00000311069	ensembl	human	known	74_37	missense	5	58	75	15.94	15	11	SNP	1	A
MAP2K7	5609	genome.wustl.edu	37	19	7977638	7977638	+	3'UTR	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:7977638C>A	ENST00000397979.3	+	0	1636				CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_3'UTR|MAP2K7_ENST00000397981.3_3'UTR|MAP2K7_ENST00000545011.1_3'UTR	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGAGAGAGCCCTGGAGTCCCG	0.682																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.*322C>A	19.37:g.7977638C>A			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	RNA	SNP	0	NULL	ENST00000397979.3	37	NULL	CCDS42491.1	19																																																																																			0	0		0.682	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	ENSG00000268149	protein_coding	OTTHUMT00000267980.1	23	29	0	0.00	0	0	C		0	0		7977638	-1	no_errors	ENST00000595655	ensembl	human	known	74_37	rna	11	20	35.29	33.33	6	10	SNP	0.154	A
RGL3	57139	genome.wustl.edu	37	19	11508234	11508234	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:11508234C>T	ENST00000380456.3	-	17	1849	c.1786G>A	c.(1786-1788)Gct>Act	p.A596T	RGL3_ENST00000393423.3_Missense_Mutation_p.A602T|RGL3_ENST00000568628.1_5'Flank	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	596	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGAGGCAAAGCGAAGGGCCGG	0.657																																					GBM(174;751 2067 17998 27979 33959)		0											0													11.0	15.0	14.0					19																	11508234		2181	4264	6445	SO:0001583	missense	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1786G>A	19.37:g.11508234C>T	ENSP00000369823:p.Ala596Thr		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A602T	ENST00000380456.3	37	c.1804	CCDS32910.1	19	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140342	0.21205	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.40756	1.17;1.02	4.29	-0.425	0.12317	.	1.577220	0.03555	N	0.226200	T	0.30727	0.0774	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.15350	-1.0440	10	0.21014	T	0.42	.	7.9522	0.30021	0.0:0.6203:0.0:0.3797	.	596;602;602;393	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	T	393;602;596	ENSP00000377075:A602T;ENSP00000369823:A596T	ENSP00000344665:A393T	A	-	1	0	RGL3	11369234	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.012000	0.12699	-0.040000	0.13580	-0.320000	0.08662	GCT	0	NULL		0.657	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	protein_coding	OTTHUMT00000421208.3	33	13	0	0.00	0	0	C	XM_290867	0	0		11508234	-1	no_errors	ENST00000393423	ensembl	human	known	74_37	missense	42	18	14.29	10.00	7	2	SNP	0	T
ZNF441	126068	genome.wustl.edu	37	19	11878013	11878013	+	Splice_Site	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:11878013T>C	ENST00000357901.4	+	1	105		c.e1+2		ZNF441_ENST00000454339.2_Splice_Site	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGGGAAATGGTGAGTGTGTGA	0.662																																							0											0													121.0	164.0	151.0					19																	11878013		692	1591	2283	SO:0001630	splice_region_variant	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.3+2T>C	19.37:g.11878013T>C				Splice_Site	SNP	0	e1+2	ENST00000357901.4	37	c.3+2	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	N	3.908	-0.020729	0.07634	.	.	ENSG00000197044	ENST00000357901	.	.	.	0.655	-0.888	0.10583	.	.	.	.	.	.	.	.	.	.	.	0.26676	N	0.971629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6119	0.12406	0.0:0.0:0.3258:0.6741	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF441	11739013	0.977000	0.34250	0.003000	0.11579	0.071000	0.16799	0.373000	0.20484	-0.402000	0.07633	-0.663000	0.03849	.	0	0		0.662	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	protein_coding	OTTHUMT00000335273.3	143	109	0	0.91	0	1	T	NM_152355	0	0	Intron	11878013	1	no_errors	ENST00000357901	ensembl	human	known	74_37	splice_site	122	112	10.29	8.87	14	11	SNP	0.152	C
CCDC130	81576	genome.wustl.edu	37	19	13869851	13869851	+	Intron	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:13869851G>T	ENST00000586600.1	+	8	903				CCDC130_ENST00000221554.8_Intron			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TACCTGCCTGGGGGCCCTGGC	0.652																																							0											0													22.0	23.0	22.0					19																	13869851		2203	4300	6503	SO:0001627	intron_variant	0			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.400+27G>T	19.37:g.13869851G>T			Q9BQ72	Missense_Mutation	SNP	pfam_CWC16	p.G44W	ENST00000586600.1	37	c.130	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	1.261	-0.615784	0.03663	.	.	ENSG00000104957	ENST00000540216	.	.	.	2.69	0.171	0.15026	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.09310	N	1	P	0.40180	0.705	B	0.24394	0.053	T	0.16129	-1.0413	6	.	.	.	.	3.2716	0.06884	0.1826:0.2784:0.539:0.0	.	143	B7Z1U2	.	W	143	.	.	G	+	1	0	CCDC130	13730851	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.434000	0.06939	-0.025000	0.13918	0.561000	0.74099	GGG	0	NULL		0.652	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	protein_coding	OTTHUMT00000453216.2	31	19	0	0.00	0	0	G	NM_030818	0	0		13869851	1	no_errors	ENST00000589096	ensembl	human	putative	74_37	missense	24	29	27.27	32.56	9	14	SNP	0	T
BRD4	23476	genome.wustl.edu	37	19	15350575	15350575	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:15350575T>C	ENST00000263377.2	-	16	3561	c.3340A>G	c.(3340-3342)Aag>Gag	p.K1114E		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1114	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GAGTGGATCTTCTCCTCCTTC	0.701			T	C15orf55	lethal midline carcinoma of young people																																		0		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													42.0	46.0	45.0					19																	15350575		2203	4300	6503	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3340A>G	19.37:g.15350575T>C	ENSP00000263377:p.Lys1114Glu		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K1114E	ENST00000263377.2	37	c.3340	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192262	0.38707	.	.	ENSG00000141867	ENST00000263377	T	0.44083	0.93	4.23	4.23	0.50019	.	0.000000	0.48286	D	0.000189	T	0.35998	0.0951	L	0.46157	1.445	0.80722	D	1	P	0.41978	0.767	B	0.37780	0.258	T	0.33828	-0.9853	10	0.66056	D	0.02	-18.0239	12.3222	0.54991	0.0:0.0:0.0:1.0	.	1114	O60885	BRD4_HUMAN	E	1114	ENSP00000263377:K1114E	ENSP00000263377:K1114E	K	-	1	0	BRD4	15211575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.499000	0.60380	1.531000	0.49152	0.459000	0.35465	AAG	0	NULL		0.701	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	protein_coding	OTTHUMT00000465800.3	25	55	0	0.00	0	0	T	NM_058243	0	0		15350575	-1	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	14	22	33.33	37.14	7	13	SNP	1	C
OR10H5	284433	genome.wustl.edu	37	19	15905529	15905529	+	Missense_Mutation	SNP	C	C	T	rs62621417	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:15905529C>T	ENST00000308940.8	+	1	769	c.671C>T	c.(670-672)gCc>gTc	p.A224V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTCATCGTGGCCGCCATCTTG	0.577																																							0											0													77.0	65.0	69.0					19																	15905529		2202	4278	6480	SO:0001583	missense	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.671C>T	19.37:g.15905529C>T	ENSP00000310704:p.Ala224Val		Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A224V	ENST00000308940.8	37	c.671	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	5.098	0.203744	0.09704	.	.	ENSG00000172519	ENST00000308940	T	0.36157	1.27	3.88	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.22244	0.0536	N	0.10837	0.055	0.09310	N	1	B	0.24675	0.109	B	0.37451	0.25	T	0.25950	-1.0117	10	0.48119	T	0.1	.	6.8306	0.23907	0.0:0.7159:0.179:0.1051	.	224	Q8NGA6	O10H5_HUMAN	V	224	ENSP00000310704:A224V	ENSP00000310704:A224V	A	+	2	0	OR10H5	15766529	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.162000	0.16501	0.214000	0.20742	-0.237000	0.12165	GCC	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	protein_coding	OTTHUMT00000460363.1	43	152	0	0.00	0	0	C		0	0		15905529	1	no_errors	ENST00000308940	ensembl	human	known	74_37	missense	31	124	27.91	25.30	12	42	SNP	0.008	T
UNC13A	23025	genome.wustl.edu	37	19	17759402	17759402	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:17759402T>A	ENST00000519716.2	-	16	1653	c.1654A>T	c.(1654-1656)Acg>Tcg	p.T552S	UNC13A_ENST00000252773.7_Missense_Mutation_p.T552S|UNC13A_ENST00000552293.1_Missense_Mutation_p.T552S|UNC13A_ENST00000428389.2_Missense_Mutation_p.T640S|UNC13A_ENST00000550896.1_Missense_Mutation_p.T550S|UNC13A_ENST00000551649.1_Missense_Mutation_p.T552S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	552					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTGTGTGGCGTCGTGCACGAG	0.617																																							0											0													163.0	181.0	175.0					19																	17759402		2188	4295	6483	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1654A>T	19.37:g.17759402T>A	ENSP00000429562:p.Thr552Ser		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T640S	ENST00000519716.2	37	c.1918	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	t	23.9	4.476374	0.84640	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	4.35	4.35	0.52113	.	0.000000	0.85682	U	0.000000	D	0.89298	0.6675	M	0.83384	2.64	0.45139	D	0.998159	D	0.55605	0.972	P	0.53006	0.715	D	0.90267	0.4305	10	0.59425	D	0.04	-17.8403	11.7448	0.51813	0.0:0.0:0.0:1.0	.	552	Q9UPW8	UN13A_HUMAN	S	552;640;552;552;552;550	ENSP00000429562:T552S;ENSP00000400409:T640S;ENSP00000252773:T552S;ENSP00000447236:T552S;ENSP00000447572:T552S;ENSP00000446831:T550S	ENSP00000252773:T552S	T	-	1	0	UNC13A	17620402	1.000000	0.71417	0.980000	0.43619	0.841000	0.47740	7.811000	0.86092	1.725000	0.51514	0.398000	0.26397	ACG	0	NULL		0.617	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	protein_coding	OTTHUMT00000376169.2	22	150	0	0.00	0	0	T	XM_038604	0	0		17759402	-1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	10	114	37.5	31.33	6	52	SNP	0.999	A
IL12RB1	3594	genome.wustl.edu	37	19	18180422	18180422	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:18180422C>T	ENST00000600835.2	-	11	1421	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	IL12RB1_ENST00000593993.2_Missense_Mutation_p.G375S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	375	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGTCCTGGCCCACAGGCTGC	0.627																																							0											0													61.0	68.0	65.0					19																	18180422		2031	4182	6213	SO:0001583	missense	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1123G>A	19.37:g.18180422C>T	ENSP00000470788:p.Gly375Ser		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G375S	ENST00000600835.2	37	c.1123	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597509	0.46318	.	.	ENSG00000096996	ENST00000430026	T	0.81078	-1.45	4.2	-1.13	0.09775	.	1.490260	0.04083	N	0.309924	T	0.82217	0.4989	L	0.60455	1.87	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.61132	0.884;0.769	T	0.66685	-0.5861	10	0.21014	T	0.42	-4.883	1.9557	0.03375	0.3564:0.3631:0.1744:0.1061	.	375;375	P42701-2;P42701	.;I12R1_HUMAN	S	375	ENSP00000403103:G375S	ENSP00000403103:G375S	G	-	1	0	IL12RB1	18041422	0.001000	0.12720	0.013000	0.15412	0.081000	0.17604	-0.003000	0.12901	0.130000	0.18549	0.430000	0.28490	GGC	0	NULL		0.627	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	protein_coding	OTTHUMT00000466525.3	30	78	0	0.00	0	0	C		0	0		18180422	-1	no_errors	ENST00000593993	ensembl	human	known	74_37	missense	28	42	30	48.15	12	39	SNP	0.014	T
IL12RB1	3594	genome.wustl.edu	37	19	18186568	18186568	+	Missense_Mutation	SNP	C	C	T	rs140762977		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:18186568C>T	ENST00000600835.2	-	8	989	c.691G>A	c.(691-693)Gtt>Att	p.V231I	IL12RB1_ENST00000322153.7_Missense_Mutation_p.V231I|IL12RB1_ENST00000593993.2_Missense_Mutation_p.V231I			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	231	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCAGGGGGAACGCACACGGGG	0.587																																							0											0								C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	64.0	62.0	63.0		691,691	-0.7	0.1	19	dbSNP_134	63	0,8600		0,0,4300	no	missense,missense	IL12RB1	NM_005535.1,NM_153701.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	231/663,231/382	18186568	1,13005	2203	4300	6503	SO:0001583	missense	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.691G>A	19.37:g.18186568C>T	ENSP00000470788:p.Val231Ile		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V231I	ENST00000600835.2	37	c.691	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.864220	0.00552	2.27E-4	0.0	ENSG00000096996	ENST00000430026;ENST00000322153	T;D	0.86164	0.38;-2.08	4.49	-0.739	0.11120	Immunoglobulin-like fold (1);	1.083410	0.07296	N	0.873330	T	0.70316	0.3210	N	0.16656	0.425	0.09310	N	0.999997	P;B;P	0.45283	0.855;0.195;0.774	B;B;B	0.32342	0.144;0.019;0.068	T	0.61153	-0.7120	10	0.27785	T	0.31	-8.9529	6.5971	0.22681	0.0:0.3281:0.0:0.6719	.	231;231;231	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	I	231	ENSP00000403103:V231I;ENSP00000314425:V231I	ENSP00000314425:V231I	V	-	1	0	IL12RB1	18047568	0.002000	0.14202	0.051000	0.19133	0.013000	0.08279	-0.345000	0.07770	0.016000	0.14998	-0.300000	0.09419	GTT	0	superfamily_Fibronectin_type3		0.587	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	protein_coding	OTTHUMT00000466525.3	27	108	0	0.00	0	0	C		rs140762977	C->T		18186568	-1	no_errors	ENST00000593993	ensembl	human	known	74_37	missense	9	103	40	26.95	6	38	SNP	0.072	T
CILP2	148113	genome.wustl.edu	37	19	19654911	19654911	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:19654911G>A	ENST00000291495.5	+	8	1642	c.1557G>A	c.(1555-1557)cgG>cgA	p.R519R	CILP2_ENST00000586018.1_Silent_p.R525R	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	519						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCACCCAGCGGCTGGTGGTGA	0.632																																							0											0													23.0	27.0	25.0					19																	19654911		2203	4299	6502	SO:0001819	synonymous_variant	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1557G>A	19.37:g.19654911G>A			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R519	ENST00000291495.5	37	c.1557	CCDS12405.1	19																																																																																			0	superfamily_Carb-bd-like_fold		0.632	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	60	128	0	0.00	0	0	G	NM_153221	0	0		19654911	1	no_errors	ENST00000291495	ensembl	human	known	74_37	silent	29	94	30.95	36.67	13	55	SNP	0.998	A
ZNF257	113835	genome.wustl.edu	37	19	22235335	22235335	+	5'UTR	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:22235335T>C	ENST00000594947.1	+	0	45				ZNF257_ENST00000600162.1_5'Flank|AC003973.5_ENST00000600071.1_lincRNA|ZNF257_ENST00000596471.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCCCTGGTCTGTGTCCTCTT	0.602																																							0											0													21.0	20.0	20.0					19																	22235335		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.-100T>C	19.37:g.22235335T>C			B3KPS4|E9PG34|Q8NE34	RNA	SNP	0	NULL	ENST00000594947.1	37	NULL	CCDS46030.1	19																																																																																			0	0		0.602	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	protein_coding	OTTHUMT00000464382.1	51	95	0	0.00	0	0	T		0	0		22235335	1	no_errors	ENST00000596471	ensembl	human	known	74_37	rna	26	78	25.71	31.90	9	37	SNP	0.002	C
ZNF536	9745	genome.wustl.edu	37	19	31039047	31039047	+	Missense_Mutation	SNP	G	G	A	rs200595340		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:31039047G>A	ENST00000355537.3	+	4	2668	c.2521G>A	c.(2521-2523)Gcc>Acc	p.A841T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	841					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGAGGGGGGCCTTCAAGGG	0.592																																							0											0													64.0	73.0	70.0					19																	31039047		2203	4300	6503	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2521G>A	19.37:g.31039047G>A	ENSP00000347730:p.Ala841Thr		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A841T	ENST00000355537.3	37	c.2521	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169166	0.38315	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.98	4.94	0.65067	.	0.051499	0.85682	D	0.000000	T	0.07458	0.0188	L	0.29908	0.895	0.45015	D	0.998035	B;B	0.21071	0.051;0.051	B;B	0.14023	0.01;0.01	T	0.27331	-1.0077	10	0.19590	T	0.45	-20.6828	15.0566	0.71917	0.0678:0.0:0.9322:0.0	.	841;841	A7E228;O15090	.;ZN536_HUMAN	T	841	ENSP00000347730:A841T	ENSP00000347730:A841T	A	+	1	0	ZNF536	35730887	1.000000	0.71417	0.806000	0.32338	0.786000	0.44442	7.642000	0.83385	1.537000	0.49254	0.591000	0.81541	GCC	0	NULL		0.592	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	33	104	0	0.00	0	0	G	NM_014717	rs200595340	G->A		31039047	1	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	20	58	31.03	32.56	9	28	SNP	0.999	A
GPI	2821	genome.wustl.edu	37	19	34857309	34857309	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:34857309C>T	ENST00000356487.5	+	2	423	c.182C>T	c.(181-183)aCg>aTg	p.T61M	GPI_ENST00000415930.3_Missense_Mutation_p.T100M|GPI_ENST00000586425.1_Missense_Mutation_p.T61M	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	61					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AACCTGGTGACGGAGGACGTG	0.557																																							0											0													277.0	210.0	232.0					19																	34857309		2203	4300	6503	SO:0001583	missense	0			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.182C>T	19.37:g.34857309C>T	ENSP00000348877:p.Thr61Met		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.T100M	ENST00000356487.5	37	c.299	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074827	0.55646	.	.	ENSG00000105220	ENST00000415930;ENST00000356487;ENST00000392234	D;D	0.94537	-3.45;-3.45	5.52	4.47	0.54385	.	0.142343	0.64402	D	0.000005	D	0.96175	0.8753	M	0.84683	2.71	0.38036	D	0.935321	P;P;P;D;P	0.53885	0.508;0.547;0.508;0.963;0.831	B;B;B;P;B	0.53689	0.137;0.117;0.094;0.732;0.333	D	0.97223	0.9879	10	0.87932	D	0	-6.0236	12.8173	0.57673	0.3069:0.6931:0.0:0.0	.	61;100;61;382;61	B4DE36;B4DG39;B4DVJ0;Q59F85;P06744	.;.;.;.;G6PI_HUMAN	M	100;61;382	ENSP00000405573:T100M;ENSP00000348877:T61M	ENSP00000348877:T61M	T	+	2	0	GPI	39549149	0.811000	0.29063	0.716000	0.30569	0.856000	0.48823	1.532000	0.36029	1.281000	0.44480	0.561000	0.74099	ACG	0	pfam_G6P_Isomerase		0.557	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	protein_coding	OTTHUMT00000451693.3	50	169	0	0.00	0	0	C		0	0		34857309	1	no_errors	ENST00000415930	ensembl	human	known	74_37	missense	31	130	29.55	30.00	13	57	SNP	0.957	T
LGI4	163175	genome.wustl.edu	37	19	35622422	35622422	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:35622422C>T	ENST00000310123.3	-	6	1015	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	LGI4_ENST00000591633.1_Missense_Mutation_p.V166I|LGI4_ENST00000392225.3_Missense_Mutation_p.V166I|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	166	LRRCT.				adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCCAGAGGACGCGGCAGTCA	0.716																																							0											0													13.0	12.0	12.0					19																	35622422		2021	3943	5964	SO:0001583	missense	0			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.496G>A	19.37:g.35622422C>T	ENSP00000312273:p.Val166Ile		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.V166I	ENST00000310123.3	37	c.496	CCDS12444.1	19	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186811	0.21870	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	D;D	0.89617	-2.54;-2.54	3.71	-7.42	0.01388	Cysteine-rich flanking region, C-terminal (1);	1.630360	0.03921	N	0.283572	T	0.73505	0.3595	N	0.10629	0.01	0.19775	N	0.999959	B;B	0.18968	0.032;0.001	B;B	0.11329	0.006;0.001	T	0.63497	-0.6624	10	0.23302	T	0.38	.	7.8013	0.29176	0.0:0.22:0.1864:0.5936	.	166;166	Q8N135-2;Q8N135	.;LGI4_HUMAN	I	166	ENSP00000312273:V166I;ENSP00000376059:V166I	ENSP00000312273:V166I	V	-	1	0	LGI4	40314262	0.000000	0.05858	0.101000	0.21167	0.706000	0.40770	-2.131000	0.01311	-1.596000	0.01611	-1.873000	0.00551	GTC	0	smart_Cys-rich_flank_reg_C		0.716	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	protein_coding	OTTHUMT00000103963.1	32	53	0	0.00	0	0	C		0	0		35622422	-1	no_errors	ENST00000310123	ensembl	human	known	74_37	missense	19	28	23.08	37.78	6	17	SNP	0.136	T
ZNF585B	92285	genome.wustl.edu	37	19	37676361	37676361	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:37676361C>T	ENST00000532828.2	-	5	2329	c.2078G>A	c.(2077-2079)aGt>aAt	p.S693N	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S281N|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S638N|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	693					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCACAGTCACTGCACTCATA	0.453																																					Melanoma(93;882 1454 18863 28917 48427)		0											0													48.0	46.0	47.0					19																	37676361		2202	4280	6482	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2078G>A	19.37:g.37676361C>T	ENSP00000433773:p.Ser693Asn		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S693N	ENST00000532828.2	37	c.2078	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.263519	0.00262	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.19250	2.16;2.16;2.16	2.65	-1.21	0.09524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.577612	0.14446	N	0.319074	T	0.06096	0.0158	N	0.05078	-0.115	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.38090	-0.9677	10	0.02654	T	1	.	3.7439	0.08540	0.0:0.2489:0.3979:0.3532	.	638;693	E9PQH3;Q52M93	.;Z585B_HUMAN	N	638;693;281	ENSP00000436774:S638N;ENSP00000433773:S693N;ENSP00000442139:S281N	ENSP00000442139:S281N	S	-	2	0	ZNF585B	42368201	0.000000	0.05858	0.666000	0.29783	0.674000	0.39518	-4.954000	0.00166	-0.026000	0.13895	0.305000	0.20034	AGT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	protein_coding	OTTHUMT00000388272.2	64	22	0	0.00	0	0	C	NM_152279	0	0		37676361	-1	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	33	20	26.67	39.39	12	13	SNP	0.003	T
CATSPERG	57828	genome.wustl.edu	37	19	38855535	38855535	+	Missense_Mutation	SNP	C	C	T	rs200588516		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:38855535C>T	ENST00000409235.3	+	21	2595	c.2480C>T	c.(2479-2481)aCg>aTg	p.T827M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.T787M|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	827					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCCCAGATTACGCTCAAGGAT	0.502																																							0											0													100.0	100.0	100.0					19																	38855535		2203	4300	6503	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2480C>T	19.37:g.38855535C>T	ENSP00000386962:p.Thr827Met		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.T827M	ENST00000409235.3	37	c.2480	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807288	0.50421	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.34472	1.36;1.36	4.5	-0.549	0.11829	.	0.493419	0.18338	N	0.144285	T	0.25269	0.0614	M	0.67953	2.075	0.80722	D	1	P;P	0.47677	0.899;0.777	B;B	0.34242	0.178;0.07	T	0.11348	-1.0591	10	0.72032	D	0.01	-12.5642	3.8129	0.08804	0.3401:0.467:0.0:0.1929	.	827;787	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	787;827;827	ENSP00000387057:T787M;ENSP00000386962:T827M	ENSP00000386962:T827M	T	+	2	0	CATSPERG	43547375	0.000000	0.05858	0.070000	0.20053	0.580000	0.36256	-1.320000	0.02700	0.100000	0.17581	0.561000	0.74099	ACG	0	NULL		0.502	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	protein_coding	OTTHUMT00000330204.1	67	254	0	0.00	0	0	C	NM_021185	rs200588516	C->T		38855535	1	no_errors	ENST00000409235	ensembl	human	known	74_37	missense	37	206	19.57	34.29	9	108	SNP	0.004	T
PLEKHG2	64857	genome.wustl.edu	37	19	39913718	39913718	+	Missense_Mutation	SNP	C	C	A	rs71356852		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:39913718C>A	ENST00000409794.3	+	18	2874	c.2024C>A	c.(2023-2025)cCt>cAt	p.P675H	PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P616H|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.P646H	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	675					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGCCATACCTAGTGTCCCC	0.572																																							0											0													97.0	108.0	104.0					19																	39913718		2203	4300	6503	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2024C>A	19.37:g.39913718C>A	ENSP00000386733:p.Pro675His		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P675H	ENST00000409794.3	37	c.2024	CCDS33022.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.13|17.13	3.310976|3.310976	0.60414|0.60414	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.74209	.|-0.6;-0.58;-0.82	5.22|5.22	4.12|4.12	0.48240|0.48240	.|.	.|0.317514	.|0.23155	.|N	.|0.051312	T|T	0.74612|0.74612	0.3739|0.3739	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.65815	.|0.995;0.992;0.992	.|P;P;P	.|0.58873	.|0.847;0.62;0.707	T|T	0.77656|0.77656	-0.2506|-0.2506	5|10	.|0.87932	.|D	.|0	.|.	13.5402|13.5402	0.61671|0.61671	0.1558:0.8442:0.0:0.0|0.1558:0.8442:0.0:0.0	.|.	.|646;675;616	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	I|H	543|675;646;616	.|ENSP00000386733:P675H;ENSP00000392906:P646H;ENSP00000408857:P616H	.|ENSP00000386733:P675H	L|P	+|+	1|2	2|0	PLEKHG2|PLEKHG2	44605558|44605558	0.015000|0.015000	0.18098|0.18098	0.010000|0.010000	0.14722|0.14722	0.796000|0.796000	0.44982|0.44982	3.491000|3.491000	0.53252|0.53252	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	CTA|CCT	0	NULL		0.572	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	protein_coding	OTTHUMT00000326802.1	52	218	0	0.00	0	0	C	NM_022835	0	0		39913718	1	no_errors	ENST00000409794	ensembl	human	known	74_37	missense	25	136	35.9	39.56	14	89	SNP	0.05	A
ZNF546	339327	genome.wustl.edu	37	19	40520367	40520367	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:40520367G>A	ENST00000347077.4	+	7	1406	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	ZNF546_ENST00000600094.1_Missense_Mutation_p.G371D|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTAGTCATGGCTCATACCTT	0.373																																							0											0													47.0	45.0	46.0					19																	40520367		2203	4300	6503	SO:0001583	missense	0			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1190G>A	19.37:g.40520367G>A	ENSP00000339823:p.Gly397Asp		A8K913	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G397D	ENST00000347077.4	37	c.1190	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	g	11.28	1.591197	0.28357	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.35973	1.28	2.76	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16981	0.0408	N	0.20483	0.58	0.09310	N	1	B;B	0.30326	0.131;0.276	B;B	0.24974	0.012;0.057	T	0.21518	-1.0243	9	0.12103	T	0.63	.	3.9633	0.09420	0.4907:0.0:0.5093:0.0	.	371;397	B3KVL3;Q86UE3	.;ZN546_HUMAN	D	397;34	ENSP00000339823:G397D	ENSP00000339823:G397D	G	+	2	0	ZNF546	45212207	0.000000	0.05858	0.016000	0.15963	0.997000	0.91878	-0.370000	0.07523	0.574000	0.29417	0.655000	0.94253	GGC	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	protein_coding	OTTHUMT00000462495.2	59	124	0	0.00	0	0	G	NM_178544	0	0		40520367	1	no_errors	ENST00000347077	ensembl	human	known	74_37	missense	30	110	16.22	20.86	6	29	SNP	0	A
AXL	558	genome.wustl.edu	37	19	41759589	41759589	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:41759589G>T	ENST00000301178.4	+	17	2202	c.2012G>T	c.(2011-2013)cGg>cTg	p.R671L	AXL_ENST00000593513.1_Missense_Mutation_p.R403L|AXL_ENST00000359092.3_Missense_Mutation_p.R662L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TTCATACACCGGGACCTGGCG	0.592																																							0											0													95.0	79.0	84.0					19																	41759589		2203	4300	6503	SO:0001583	missense	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2012G>T	19.37:g.41759589G>T	ENSP00000301178:p.Arg671Leu		Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R671L	ENST00000301178.4	37	c.2012	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936669	0.92458	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.74421	-0.84;-0.84	5.24	4.21	0.49690	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.062472	0.64402	D	0.000011	D	0.85643	0.5744	M	0.92970	3.365	0.50632	D	0.999888	D;D	0.61080	0.989;0.981	P;P	0.55260	0.735;0.772	D	0.88998	0.3419	10	0.87932	D	0	-17.345	12.7102	0.57086	0.0806:0.0:0.9194:0.0	.	662;671	P30530-2;P30530	.;UFO_HUMAN	L	671;662	ENSP00000301178:R671L;ENSP00000351995:R662L	ENSP00000301178:R671L	R	+	2	0	AXL	46451429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.595000	0.98260	1.444000	0.47605	0.591000	0.81541	CGG	0	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.592	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	55	125	0	0.00	0	0	G		0	0		41759589	1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	37	111	27.45	26.58	14	42	SNP	1	T
CADM4	199731	genome.wustl.edu	37	19	44130991	44130991	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:44130991C>T	ENST00000222374.2	-	4	492	c.444G>A	c.(442-444)ccG>ccA	p.P148P	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	148	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GACGGGACCGCGGAACGAGGC	0.687																																							0											0													45.0	51.0	49.0					19																	44130991		2201	4296	6497	SO:0001819	synonymous_variant	0			AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.444G>A	19.37:g.44130991C>T			B2R7L5|Q9Y4A4	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.P148	ENST00000222374.2	37	c.444	CCDS12627.1	19																																																																																			0	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.687	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM4	protein_coding	OTTHUMT00000463352.1	59	56	0	0.00	0	0	C	NM_145296	0	0		44130991	-1	no_errors	ENST00000222374	ensembl	human	known	74_37	silent	57	40	29.63	25.45	24	14	SNP	0.609	T
PLAUR	5329	genome.wustl.edu	37	19	44160700	44160700	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:44160700G>T	ENST00000340093.3	-	4	632	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	PLAUR_ENST00000339082.3_Missense_Mutation_p.L135M|PLAUR_ENST00000601723.1_Missense_Mutation_p.L135M|PLAUR_ENST00000221264.4_Missense_Mutation_p.L135M	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	135	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGGCACTGCAGGCTCTGGTGC	0.597																																							0											0													98.0	94.0	95.0					19																	44160700		2203	4300	6503	SO:0001583	missense	0				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.403C>A	19.37:g.44160700G>T	ENSP00000339328:p.Leu135Met		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.L135M	ENST00000340093.3	37	c.403	CCDS12628.1	19	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329842	0.41297	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.36699	1.24;1.24;1.24	4.77	3.72	0.42706	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.680172	0.12170	N	0.493129	T	0.41050	0.1142	N	0.24115	0.695	0.33634	D	0.606379	D;P;D;D	0.65815	0.989;0.941;0.995;0.985	P;P;P;P	0.61477	0.59;0.747;0.835;0.889	T	0.49606	-0.8922	10	0.46703	T	0.11	-10.5471	10.1657	0.42879	0.0:0.0:0.8009:0.1991	.	135;135;135;135	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	M	135	ENSP00000342049:L135M;ENSP00000339328:L135M;ENSP00000221264:L135M	ENSP00000221264:L135M	L	-	1	2	PLAUR	48852540	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	2.613000	0.46351	1.206000	0.43276	0.462000	0.41574	CTG	0	pfam_LY6_UPAR,smart_LY6_UPA_recep-like		0.597	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAUR	protein_coding	OTTHUMT00000463571.1	28	43	0	0.00	0	0	G	NM_002659	0	0		44160700	-1	no_errors	ENST00000340093	ensembl	human	known	74_37	missense	21	28	22.22	34.88	6	15	SNP	0.999	T
PVR	5817	genome.wustl.edu	37	19	45150743	45150743	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:45150743A>G	ENST00000425690.3	+	2	627	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.M110V|PVR_ENST00000344956.4_Missense_Mutation_p.M110V|PVR_ENST00000406449.4_Missense_Mutation_p.M110V	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	110	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTCGCTGAGGATGTTCGGGTT	0.617																																							0											0													60.0	52.0	55.0					19																	45150743		2203	4300	6503	SO:0001583	missense	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.328A>G	19.37:g.45150743A>G	ENSP00000402060:p.Met110Val		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.M110V	ENST00000425690.3	37	c.328	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	A	5.108	0.205639	0.09704	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	4.63	-9.0	0.00747	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.631950	0.03970	N	0.291442	T	0.70806	0.3266	N	0.00210	-1.845	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.002;0.002;0.003	T	0.67209	-0.5728	10	0.31617	T	0.26	.	7.5666	0.27883	0.2791:0.4683:0.2527:0.0	.	110;110;110;110	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	V	110	ENSP00000340870:M110V;ENSP00000402060:M110V;ENSP00000383907:M110V;ENSP00000385344:M110V	ENSP00000340870:M110V	M	+	1	0	PVR	49842583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.530000	0.00944	-1.146000	0.02854	-0.661000	0.03856	ATG	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.617	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	protein_coding	OTTHUMT00000323017.2	27	98	0	0.00	0	0	A	NM_006505	0	0		45150743	1	no_errors	ENST00000425690	ensembl	human	known	74_37	missense	21	79	16	36.29	4	45	SNP	0	G
CBLC	23624	genome.wustl.edu	37	19	45285627	45285627	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:45285627C>T	ENST00000270279.3	+	4	721	c.658C>T	c.(658-660)Cca>Tca	p.P220S	CBLC_ENST00000341505.4_Splice_Site_p.P220S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	220	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCACCCCAGCCATGGCCAAC	0.607			M		AML																																		0		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													116.0	113.0	114.0					19																	45285627		2203	4300	6503	SO:0001630	splice_region_variant	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.658-1C>T	19.37:g.45285627C>T			Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.P220S	ENST00000270279.3	37	c.658	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	22.6	4.306625	0.81247	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.93953	-2.83;-3.32	4.44	4.44	0.53790	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.64402	D	0.000014	D	0.96546	0.8873	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96533	0.9394	9	.	.	.	-15.7925	14.9237	0.70859	0.0:1.0:0.0:0.0	.	220;220	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	S	220	ENSP00000270279:P220S;ENSP00000340250:P220S	.	P	+	1	0	CBLC	49977467	1.000000	0.71417	0.984000	0.44739	0.895000	0.52256	7.243000	0.78219	2.473000	0.83533	0.491000	0.48974	CCA	0	pfam_Adaptor_Cbl_EF_hand-like		0.607	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	protein_coding	OTTHUMT00000319732.2	28	113	0	0.00	0	0	C	NM_012116	0	0	Missense_Mutation	45285627	1	no_errors	ENST00000270279	ensembl	human	known	74_37	missense	11	116	35.29	24.18	6	37	SNP	1	T
CALM3	808	genome.wustl.edu	37	19	47112136	47112136	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:47112136C>T	ENST00000291295.9	+	5	518	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	CALM3_ENST00000594523.1_Missense_Mutation_p.R71C|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Missense_Mutation_p.R71C|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000597743.1_Intron|CALM3_ENST00000596362.1_Missense_Mutation_p.R107C|CALM3_ENST00000599839.1_Missense_Mutation_p.R71C|CALM3_ENST00000391918.2_Missense_Mutation_p.R71C	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	107	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	CGCAGAGCTGCGTCACGTAAT	0.577																																							0											0													76.0	61.0	66.0					19																	47112136		2203	4300	6503	SO:0001583	missense	0				CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.319C>T	19.37:g.47112136C>T	ENSP00000291295:p.Arg107Cys		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R107C	ENST00000291295.9	37	c.319	CCDS33061.1	19	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728055	0.48833	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	D	0.87650	-2.28	4.67	4.67	0.58626	.	0.115190	0.39909	N	0.001231	D	0.93012	0.7776	M	0.85197	2.74	0.80722	D	1	.	.	.	.	.	.	D	0.94097	0.7358	8	0.87932	D	0	-11.3822	15.1047	0.72312	0.0:1.0:0.0:0.0	.	.	.	.	C	107	ENSP00000291295:R107C	ENSP00000291295:R107C	R	+	1	0	CALM3	51803976	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.561000	0.82288	2.410000	0.81850	0.655000	0.94253	CGT	0	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin		0.577	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM3	protein_coding	OTTHUMT00000257483.2	15	77	0	0.00	0	0	C		0	0		47112136	1	no_errors	ENST00000291295	ensembl	human	known	74_37	missense	15	80	28.57	30.17	6	35	SNP	1	T
SLC8A2	6543	genome.wustl.edu	37	19	47969309	47969309	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:47969309C>T	ENST00000236877.6	-	2	747	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	118					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACGGTGCCCACGCTGGTCTCA	0.587																																							0											0													120.0	73.0	89.0					19																	47969309		2203	4300	6503	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.352G>A	19.37:g.47969309C>T	ENSP00000236877:p.Val118Met		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.V118M	ENST00000236877.6	37	c.352	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572769	0.65765	.	.	ENSG00000118160	ENST00000236877	T	0.34472	1.36	4.25	4.25	0.50352	Sodium/calcium exchanger membrane region (1);	0.000000	0.64402	D	0.000001	T	0.57475	0.2056	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.61959	-0.6955	10	0.66056	D	0.02	.	9.9592	0.41686	0.0:0.9013:0.0:0.0987	.	118	Q9UPR5	NAC2_HUMAN	M	118	ENSP00000236877:V118M	ENSP00000236877:V118M	V	-	1	0	SLC8A2	52661121	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.099000	0.15210	2.210000	0.71456	0.462000	0.41574	GTG	0	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.587	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	protein_coding	OTTHUMT00000466997.1	16	103	0	0.00	0	0	C		0	0		47969309	-1	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	8	98	33.33	31.94	4	46	SNP	1	T
KPTN	11133	genome.wustl.edu	37	19	47984057	47984057	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:47984057C>T	ENST00000338134.3	-	6	666	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	KPTN_ENST00000536339.1_De_novo_Start_OutOfFrame|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	187					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGTTTTCCACGGGCTGTTCC	0.592																																							0											0													123.0	129.0	127.0					19																	47984057		1946	4138	6084	SO:0001583	missense	0			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.559G>A	19.37:g.47984057C>T	ENSP00000337850:p.Val187Met		B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	NULL	p.V187M	ENST00000338134.3	37	c.559	CCDS42583.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.195936	0.94960	.	.	ENSG00000118162	ENST00000338134	T	0.43294	0.95	5.44	5.44	0.79542	.	0.065721	0.64402	D	0.000011	T	0.49745	0.1575	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.48063	0.565	T	0.54357	-0.8306	10	0.66056	D	0.02	.	18.0622	0.89380	0.0:1.0:0.0:0.0	.	187	Q9Y664	KPTN_HUMAN	M	187	ENSP00000337850:V187M	ENSP00000337850:V187M	V	-	1	0	KPTN	52675869	1.000000	0.71417	0.947000	0.38551	0.996000	0.88848	4.844000	0.62846	2.556000	0.86216	0.450000	0.29827	GTG	0	NULL		0.592	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPTN	protein_coding	OTTHUMT00000466672.2	36	166	0	0.00	0	0	C		0	0		47984057	-1	no_errors	ENST00000338134	ensembl	human	known	74_37	missense	20	117	28.57	20.95	8	31	SNP	1	T
PLA2G4C	8605	genome.wustl.edu	37	19	48565269	48565269	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:48565269C>T	ENST00000599921.1	-	14	1600	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G415R|CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G415R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G425R			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	415	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AAAGGATCTCCGGCACTGAAG	0.627																																							0											0													90.0	88.0	89.0					19																	48565269		2203	4300	6503	SO:0001583	missense	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1243G>A	19.37:g.48565269C>T	ENSP00000469473:p.Gly415Arg		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	p.G425R	ENST00000599921.1	37	c.1273	CCDS12710.1	19	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757233	0.31137	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04758	3.56;3.56	2.79	2.79	0.32731	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.173619	0.36409	N	0.002613	T	0.04543	0.0124	L	0.56280	1.765	0.28932	N	0.89152	P;P	0.39404	0.591;0.672	B;B	0.27887	0.084;0.046	T	0.24657	-1.0154	10	0.45353	T	0.12	-4.3178	9.3872	0.38349	0.0:1.0:0.0:0.0	.	425;415	B4DI40;Q9UP65	.;PA24C_HUMAN	R	415	ENSP00000346228:G415R;ENSP00000400036:G415R	ENSP00000346228:G415R	G	-	1	0	PLA2G4C	53257081	0.277000	0.24220	0.598000	0.28837	0.663000	0.39108	1.912000	0.39946	1.270000	0.44297	0.405000	0.27470	GGA	0	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.627	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	protein_coding	OTTHUMT00000465551.1	79	135	0	0.00	0	0	C		0	0		48565269	-1	no_errors	ENST00000599111	ensembl	human	known	74_37	missense	45	88	19.64	31.54	11	41	SNP	0.993	T
CCDC114	93233	genome.wustl.edu	37	19	48801293	48801293	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:48801293G>A	ENST00000315396.7	-	12	2037	c.1355C>T	c.(1354-1356)cCg>cTg	p.P452L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	452					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CATCTTCTTCGGAAGGTCCTC	0.677																																							0											0													44.0	45.0	44.0					19																	48801293		2203	4300	6503	SO:0001583	missense	0			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1355C>T	19.37:g.48801293G>A	ENSP00000318429:p.Pro452Leu		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.P452L	ENST00000315396.7	37	c.1355	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	G	7.928	0.740135	0.15642	.	.	ENSG00000105479	ENST00000315396	T	0.22743	1.94	3.39	-0.14	0.13456	.	.	.	.	.	T	0.08223	0.0205	N	0.17082	0.46	0.09310	N	1	B;B	0.21688	0.059;0.022	B;B	0.15484	0.013;0.008	T	0.37776	-0.9691	9	0.02654	T	1	-1.8489	3.6579	0.08228	0.2527:0.253:0.4943:0.0	.	452;452	Q96M63;Q96M63-5	CC114_HUMAN;.	L	452	ENSP00000318429:P452L	ENSP00000318429:P452L	P	-	2	0	CCDC114	53493105	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.160000	0.16462	0.073000	0.16731	0.655000	0.94253	CCG	0	NULL		0.677	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	protein_coding	OTTHUMT00000343207.1	29	62	0	0.00	0	0	G	NM_144577	0	0		48801293	-1	no_errors	ENST00000315396	ensembl	human	known	74_37	missense	28	40	20	23.08	7	12	SNP	0.001	A
GRWD1	83743	genome.wustl.edu	37	19	48956016	48956016	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:48956016G>A	ENST00000253237.5	+	7	1308	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	359						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CGTGACCTCCGTCGAGTGGCA	0.657																																							0											0													65.0	62.0	63.0					19																	48956016		2203	4300	6503	SO:0001583	missense	0			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1075G>A	19.37:g.48956016G>A	ENSP00000253237:p.Val359Ile		Q8TF59	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V359I	ENST00000253237.5	37	c.1075	CCDS12720.1	19	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660145	0.88154	.	.	ENSG00000105447	ENST00000253237	T	0.61040	0.14	5.34	5.34	0.76211	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	0.67401	0.2889	L	0.35723	1.085	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.62604	-0.6819	10	0.30078	T	0.28	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	359	Q9BQ67	GRWD1_HUMAN	I	359	ENSP00000253237:V359I	ENSP00000253237:V359I	V	+	1	0	GRWD1	53647828	1.000000	0.71417	0.644000	0.29465	0.957000	0.61999	4.623000	0.61247	2.686000	0.91538	0.561000	0.74099	GTC	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRWD1	protein_coding	OTTHUMT00000466122.1	37	67	0	0.00	0	0	G	NM_031485	0	0		48956016	1	no_errors	ENST00000253237	ensembl	human	known	74_37	missense	21	53	36.36	25.35	12	18	SNP	1	A
PLEKHA4	57664	genome.wustl.edu	37	19	49368837	49368837	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49368837C>T	ENST00000263265.6	-	3	670	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.A39T	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	39						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TTCCCAAAGGCGTGGATCTTG	0.587																																							0											0													133.0	103.0	113.0					19																	49368837		2203	4300	6503	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.115G>A	19.37:g.49368837C>T	ENSP00000263265:p.Ala39Thr		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A39T	ENST00000263265.6	37	c.115	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093352	0.36952	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.12465	2.68;2.68	5.04	4.0	0.46444	.	0.069186	0.56097	D	0.000037	T	0.13670	0.0331	L	0.61218	1.895	0.28994	N	0.887846	B;B	0.15141	0.007;0.012	B;B	0.10450	0.002;0.005	T	0.13522	-1.0506	10	0.21540	T	0.41	.	8.3567	0.32335	0.0:0.8175:0.0:0.1825	.	39;39	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	T	39	ENSP00000263265:A39T;ENSP00000347683:A39T	ENSP00000263265:A39T	A	-	1	0	PLEKHA4	54060649	0.980000	0.34600	0.913000	0.36048	0.949000	0.60115	2.235000	0.43044	1.251000	0.43983	0.563000	0.77884	GCC	0	NULL		0.587	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	protein_coding	OTTHUMT00000466216.1	42	186	0	0.00	0	0	C		0	0		49368837	-1	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	21	215	34.38	16.60	11	43	SNP	0.926	T
PPFIA3	8541	genome.wustl.edu	37	19	49633814	49633814	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49633814G>T	ENST00000334186.4	+	7	1186	c.837G>T	c.(835-837)aaG>aaT	p.K279N	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K279N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	279					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCTGGGCAAGGCAGAGGAAG	0.697																																							0											0													16.0	18.0	17.0					19																	49633814		2175	4273	6448	SO:0001583	missense	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.837G>T	19.37:g.49633814G>T	ENSP00000335614:p.Lys279Asn		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K279N	ENST00000334186.4	37	c.837	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258482	0.59321	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.39997	1.05	4.15	2.02	0.26589	.	0.000000	0.49916	D	0.000139	T	0.60353	0.2262	M	0.85299	2.745	0.40528	D	0.980903	D;D;P	0.69078	0.997;0.985;0.848	D;D;P	0.65987	0.928;0.94;0.536	T	0.64106	-0.6485	10	0.72032	D	0.01	-31.279	7.1783	0.25757	0.296:0.0:0.704:0.0	.	203;279;279	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	N	279;203	ENSP00000335614:K279N	ENSP00000335614:K279N	K	+	3	2	PPFIA3	54325626	0.997000	0.39634	1.000000	0.80357	0.922000	0.55478	0.579000	0.23788	1.109000	0.41680	0.305000	0.20034	AAG	0	NULL		0.697	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	protein_coding	OTTHUMT00000465688.1	14	33	0	0.00	0	0	G	NM_003660	0	0		49633814	1	no_errors	ENST00000334186	ensembl	human	known	74_37	missense	10	37	23.08	15.91	3	7	SNP	1	T
TRPM4	54795	genome.wustl.edu	37	19	49714514	49714514	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49714514C>T	ENST00000252826.5	+	24	3754	c.3628C>T	c.(3628-3630)Cct>Tct	p.P1210S	TRPM4_ENST00000355712.5_Missense_Mutation_p.P856S|TRPM4_ENST00000427978.2_Missense_Mutation_p.P1065S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1210				P -> H (in Ref. 6; BAA90907). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCTGACCTGCCTGGGTCCAA	0.632																																							0											0													16.0	16.0	16.0					19																	49714514		2193	4286	6479	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3628C>T	19.37:g.49714514C>T	ENSP00000252826:p.Pro1210Ser		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.P1210S	ENST00000252826.5	37	c.3628	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600553	0.46423	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.57273	0.46;0.41;0.6	5.01	0.212	0.15240	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.001;0.003	B;B;B;B	0.10450	0.002;0.005;0.003;0.002	T	0.26710	-1.0095	9	0.02654	T	1	-0.4898	4.2209	0.10558	0.3205:0.5006:0.0:0.1789	.	856;1036;1065;1210	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	1210;1065;856	ENSP00000252826:P1210S;ENSP00000407492:P1065S;ENSP00000347944:P856S	ENSP00000252826:P1210S	P	+	1	0	TRPM4	54406326	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.421000	0.07053	-0.031000	0.13781	0.655000	0.94253	CCT	0	NULL		0.632	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	protein_coding	OTTHUMT00000465543.2	41	107	0	0.93	0	1	C	NM_017636	0	0		49714514	1	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	36	78	26.53	26.42	13	28	SNP	0	T
ALDH16A1	126133	genome.wustl.edu	37	19	49971697	49971697	+	Silent	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49971697G>T	ENST00000293350.4	+	15	2161	c.1998G>T	c.(1996-1998)gtG>gtT	p.V666V	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.V615V|ALDH16A1_ENST00000540132.1_Silent_p.V503V|ALDH16A1_ENST00000433981.2_Silent_p.V501V	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	666						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGCTGGCTGTGGTGTGTCCGG	0.706																																							0											0													122.0	131.0	128.0					19																	49971697		2203	4299	6502	SO:0001819	synonymous_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1998G>T	19.37:g.49971697G>T			B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.V666	ENST00000293350.4	37	c.1998	CCDS12766.1	19																																																																																			0	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.706	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	protein_coding	OTTHUMT00000465358.1	57	98	0	0.00	0	0	G	NM_153329	0	0		49971697	1	no_errors	ENST00000293350	ensembl	human	known	74_37	silent	30	65	47.37	26.97	27	24	SNP	0.227	T
MYH14	79784	genome.wustl.edu	37	19	50713829	50713829	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:50713829G>A	ENST00000596571.1	+	1	207	c.207G>A	c.(205-207)gcG>gcA	p.A69A	MYH14_ENST00000440075.2_Silent_p.A69A|MYH14_ENST00000262269.8_Silent_p.A69A|MYH14_ENST00000425460.1_Silent_p.A69A|MYH14_ENST00000598205.1_Silent_p.A69A|MYH14_ENST00000601313.1_Silent_p.A69A|MYH14_ENST00000376970.2_Silent_p.A69A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	69					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCGGCGGCGCTGCGGGACG	0.746																																							0											0													7.0	11.0	10.0					19																	50713829		2052	4130	6182	SO:0001819	synonymous_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.207G>A	19.37:g.50713829G>A			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A69	ENST00000596571.1	37	c.207	CCDS59411.1	19																																																																																			0	pfam_Myosin_N,superfamily_P-loop_NTPase		0.746	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	10	43	0	0.00	0	0	G	NM_024729	0	0		50713829	1	no_errors	ENST00000262269	ensembl	human	known	74_37	silent	8	38	33.33	23.08	4	12	SNP	0.993	A
MYH14	79784	genome.wustl.edu	37	19	50720873	50720873	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:50720873C>T	ENST00000596571.1	+	2	407	c.407C>T	c.(406-408)aCg>aTg	p.T136M	MYH14_ENST00000440075.2_Splice_Site_p.T136M|MYH14_ENST00000262269.8_Splice_Site_p.T136M|MYH14_ENST00000425460.1_Splice_Site_p.T136M|MYH14_ENST00000598205.1_Splice_Site_p.T136M|MYH14_ENST00000601313.1_Splice_Site_p.T136M|MYH14_ENST00000376970.2_Splice_Site_p.T136M			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	136	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCACTGCAGACGTACTCCGGC	0.597																																							0											0													112.0	122.0	119.0					19																	50720873		2198	4297	6495	SO:0001630	splice_region_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.406-1C>T	19.37:g.50720873C>T			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T136M	ENST00000596571.1	37	c.407	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397496	0.42512	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.36	3.29	0.37713	Myosin head, motor domain (3);	.	.	.	.	D	0.95249	0.8459	H	0.99929	4.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95816	0.8845	9	0.87932	D	0	.	12.1176	0.53873	0.0:0.8249:0.1751:0.0	.	136;136;136	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	M	136	ENSP00000406273:T136M;ENSP00000366169:T136M;ENSP00000407879:T136M;ENSP00000262269:T136M	ENSP00000262269:T136M	T	+	2	0	MYH14	55412685	1.000000	0.71417	0.798000	0.32154	0.068000	0.16541	7.606000	0.82863	1.159000	0.42565	0.655000	0.94253	ACG	0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.597	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	39	151	0	0.00	0	0	C	NM_024729	0	0	Missense_Mutation	50720873	1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	28	88	22.22	33.33	8	44	SNP	0.997	T
SIGLEC7	27036	genome.wustl.edu	37	19	51650064	51650064	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:51650064G>T	ENST00000317643.6	+	5	1150	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A268S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	361					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGAGCTGGAGCCACAGCCCT	0.577																																							0											0													104.0	99.0	100.0					19																	51650064		2203	4300	6503	SO:0001583	missense	0			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.1081G>T	19.37:g.51650064G>T	ENSP00000323328:p.Ala361Ser		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A361S	ENST00000317643.6	37	c.1081	CCDS12826.1	19	.	.	.	.	.	.	.	.	.	.	.	12.28	1.890807	0.33348	.	.	ENSG00000168995	ENST00000317643;ENST00000305628	T;T	0.04706	3.57;3.57	2.75	1.69	0.24217	.	1.098330	0.07222	U	0.861108	T	0.05640	0.0148	M	0.64567	1.98	0.09310	N	0.999999	P;P	0.50617	0.84;0.937	B;B	0.34590	0.186;0.164	T	0.41502	-0.9505	10	0.72032	D	0.01	.	5.6412	0.17565	0.1612:0.0:0.8388:0.0	.	268;361	Q9Y286-2;Q9Y286	.;SIGL7_HUMAN	S	361;268	ENSP00000323328:A361S;ENSP00000306757:A268S	ENSP00000306757:A268S	A	+	1	0	SIGLEC7	56341876	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	0.126000	0.15769	0.517000	0.28361	0.420000	0.28162	GCC	0	NULL		0.577	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC7	protein_coding	OTTHUMT00000464226.2	43	71	0	1.39	0	1	G	NM_016543	0	0		51650064	1	no_errors	ENST00000317643	ensembl	human	known	74_37	missense	16	67	46.67	30.93	14	30	SNP	0.001	T
ZNF808	388558	genome.wustl.edu	37	19	53058425	53058425	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:53058425C>T	ENST00000359798.4	+	5	2436	c.2256C>T	c.(2254-2256)tgC>tgT	p.C752C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	752					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCCTTCTATGCCATCGTAGAC	0.453																																							0											0													178.0	175.0	176.0					19																	53058425		2203	4300	6503	SO:0001819	synonymous_variant	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2256C>T	19.37:g.53058425C>T			Q68CN7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C752	ENST00000359798.4	37	c.2256	CCDS46167.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	protein_coding	OTTHUMT00000350447.3	140	113	0	0.00	0	0	C	NM_001039886	0	0		53058425	1	no_errors	ENST00000359798	ensembl	human	known	74_37	silent	65	65	23.53	27.78	20	25	SNP	0.007	T
ZNF347	84671	genome.wustl.edu	37	19	53644236	53644236	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:53644236A>T	ENST00000334197.7	-	5	1913	c.1845T>A	c.(1843-1845)caT>caA	p.H615Q	ZNF347_ENST00000452676.2_Missense_Mutation_p.H616Q|ZNF347_ENST00000601469.2_Missense_Mutation_p.H616Q|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	615					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GAATTCGCTGATGCCTTGAAA	0.398																																					Melanoma(64;205 1597 17324 45721)		0											0													113.0	108.0	110.0					19																	53644236		2203	4300	6503	SO:0001583	missense	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1845T>A	19.37:g.53644236A>T	ENSP00000334146:p.His615Gln		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H616Q	ENST00000334197.7	37	c.1848	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191148	0.38707	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.86865	-2.18;-2.18	3.01	-4.08	0.03963	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92506	0.7620	M	0.86502	2.82	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.86939	0.2078	9	0.66056	D	0.02	.	10.1255	0.42648	0.4824:0.0:0.5176:0.0	.	616;615	G5E9N4;Q96SE7	.;ZN347_HUMAN	Q	615;616	ENSP00000334146:H615Q;ENSP00000405218:H616Q	ENSP00000334146:H615Q	H	-	3	2	ZNF347	58336048	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.694000	0.05115	-1.323000	0.02275	-0.408000	0.06270	CAT	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	protein_coding	OTTHUMT00000464170.1	94	57	0	0.00	0	0	A	NM_032584	0	0		53644236	-1	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	41	41	33.87	24.07	21	13	SNP	0.007	T
NLRP12	91662	genome.wustl.edu	37	19	54308674	54308674	+	Silent	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:54308674G>T	ENST00000324134.6	-	5	2442	c.2274C>A	c.(2272-2274)gcC>gcA	p.A758A	NLRP12_ENST00000391773.1_Silent_p.A759A|NLRP12_ENST00000535162.1_Silent_p.A758A|NLRP12_ENST00000345770.5_Silent_p.A759A|NLRP12_ENST00000391772.1_Silent_p.A759A|NLRP12_ENST00000391775.3_Silent_p.A758A|NLRP12_ENST00000354278.3_Silent_p.A758A|NLRP12_ENST00000351894.4_Silent_p.A758A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	758					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCCTCGCAGGCTGAGCTGG	0.502																																							0											0													91.0	91.0	91.0					19																	54308674		2203	4300	6503	SO:0001819	synonymous_variant	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2274C>A	19.37:g.54308674G>T			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A758	ENST00000324134.6	37	c.2274	CCDS12864.1	19																																																																																			0	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.502	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	27	150	0	0.00	0	0	G	NM_144687	0	0		54308674	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	silent	13	126	35	23.64	7	39	SNP	0.979	T
MYADM	91663	genome.wustl.edu	37	19	54376795	54376795	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:54376795G>A	ENST00000391769.2	+	3	292	c.12G>A	c.(10-12)acG>acA	p.T4T	MYADM_ENST00000336967.3_Silent_p.T4T|MYADM_ENST00000391771.1_Silent_p.T4T|MYADM_ENST00000391770.4_Silent_p.T4T|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391768.2_Silent_p.T4T	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	4					establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGCCAGTGACGGTAACCCGCA	0.577											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0													68.0	58.0	61.0					19																	54376795		2203	4300	6503	SO:0001819	synonymous_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.12G>A	19.37:g.54376795G>A		999	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	pfam_Marvel	p.T4	ENST00000391769.2	37	c.12	CCDS12866.1	19																																																																																			0	NULL		0.577	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	protein_coding	OTTHUMT00000134337.1	51	208	0	0.47	0	1	G	NM_138373	0	0		54376795	1	no_errors	ENST00000336967	ensembl	human	known	74_37	silent	10	154	33.33	30.94	5	69	SNP	0.012	A
LENG8	114823	genome.wustl.edu	37	19	54969669	54969669	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:54969669C>T	ENST00000326764.5	+	15	2688	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	700										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGATCGGGAGCGCAAGGTCGC	0.602																																							0											0													85.0	73.0	77.0					19																	54969669		2203	4300	6503	SO:0001583	missense	0			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.2209C>T	19.37:g.54969669C>T	ENSP00000318374:p.Arg737Cys		B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R737C	ENST00000326764.5	37	c.2209	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037221	0.75617	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846;ENST00000421200	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.36	3.03	0.35002	.	0.075389	0.56097	D	0.000039	D	0.84723	0.5535	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87604	0.2499	10	0.87932	D	0	-30.5754	10.9951	0.47571	0.4601:0.5399:0.0:0.0	.	737;700	Q96PV6-2;F8W9Q9	.;.	C	737;700;700;737;26	ENSP00000318374:R737C;ENSP00000365709:R700C;ENSP00000388053:R737C;ENSP00000390612:R26C	ENSP00000301196:R700C	R	+	1	0	LENG8	59661481	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.353000	0.59411	1.358000	0.45922	0.561000	0.74099	CGC	0	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25		0.602	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	protein_coding	OTTHUMT00000140523.2	14	119	0	0.00	0	0	C	NM_052925	0	0		54969669	1	no_errors	ENST00000326764	ensembl	human	known	74_37	missense	10	94	23.08	32.62	3	46	SNP	1	T
NCR1	9437	genome.wustl.edu	37	19	55417910	55417910	+	Missense_Mutation	SNP	G	G	A	rs587627160		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:55417910G>A	ENST00000291890.4	+	3	138	c.100G>A	c.(100-102)Gag>Aag	p.E34K	NCR1_ENST00000598576.1_Missense_Mutation_p.E22K|NCR1_ENST00000338835.5_Missense_Mutation_p.E34K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E34K|NCR1_ENST00000594765.1_Missense_Mutation_p.E34K	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	34	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CATCTGGGCCGAGCCCCATTT	0.542													.|||	1	0.000199681	0.0	0.0	5008	,	,		18288	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0													59.0	64.0	62.0					19																	55417910		2203	4300	6503	SO:0001583	missense	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.100G>A	19.37:g.55417910G>A	ENSP00000291890:p.Glu34Lys		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	smart_Ig_sub	p.E34K	ENST00000291890.4	37	c.100	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368351	0.24771	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.14022	2.54;2.54;2.54	3.87	-2.54	0.06307	Immunoglobulin-like fold (1);	0.972768	0.08460	N	0.942522	T	0.07954	0.0199	N	0.16098	0.37	0.09310	N	0.999996	B;B;B	0.17268	0.012;0.019;0.021	B;B;B	0.16722	0.008;0.016;0.013	T	0.39702	-0.9601	10	0.36615	T	0.2	.	9.7614	0.40534	0.3884:0.0:0.6116:0.0	.	34;34;34	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	K	34	ENSP00000291890:E34K;ENSP00000404434:E34K;ENSP00000339515:E34K	ENSP00000291890:E34K	E	+	1	0	NCR1	60109722	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.243000	0.08915	-0.548000	0.06199	-0.300000	0.09419	GAG	0	smart_Ig_sub		0.542	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	48	147	0	0.00	0	0	G		rs587627160	G->A		55417910	1	no_errors	ENST00000291890	ensembl	human	known	74_37	missense	23	144	34.29	31.43	12	66	SNP	0.003	A
PTPRH	5794	genome.wustl.edu	37	19	55697888	55697888	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:55697888G>T	ENST00000376350.3	-	15	2609	c.2587C>A	c.(2587-2589)Ctg>Atg	p.L863M	PTPRH_ENST00000263434.5_Missense_Mutation_p.L685M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	863	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGGGCTTCAGGGGCACCCGG	0.587																																							0											0													68.0	69.0	69.0					19																	55697888		2203	4300	6503	SO:0001583	missense	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2587C>A	19.37:g.55697888G>T	ENSP00000365528:p.Leu863Met		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L863M	ENST00000376350.3	37	c.2587	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148336	0.78001	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.33654	1.4;1.4	5.25	3.12	0.35913	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.30630	N	0.009207	T	0.69079	0.3071	H	0.96460	3.825	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76313	-0.3005	10	0.87932	D	0	.	11.1338	0.48362	0.1544:0.0:0.8456:0.0	.	685;863	C9JCH2;Q9HD43	.;PTPRH_HUMAN	M	863;685	ENSP00000365528:L863M;ENSP00000263434:L685M	ENSP00000263434:L685M	L	-	1	2	PTPRH	60389700	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	4.844000	0.62846	0.734000	0.32515	0.650000	0.86243	CTG	0	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.587	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	protein_coding	OTTHUMT00000452649.1	18	79	0	0.00	0	0	G		0	0		55697888	-1	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	9	57	35.71	28.75	5	23	SNP	1	T
UBE2S	27338	genome.wustl.edu	37	19	55912864	55912864	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:55912864G>A	ENST00000264552.9	-	4	796	c.609C>T	c.(607-609)cgC>cgT	p.R203R	UBE2S_ENST00000592570.1_5'Flank|CTD-2105E13.13_ENST00000589101.1_lincRNA|RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	203					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GCTTCTTATCGCGCTCGCCAG	0.667																																							0											0													16.0	18.0	17.0					19																	55912864		1724	3628	5352	SO:0001819	synonymous_variant	0			BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.609C>T	19.37:g.55912864G>A			Q9BTC1	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R203	ENST00000264552.9	37	c.609	CCDS33114.1	19																																																																																			0	NULL		0.667	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2S	protein_coding	OTTHUMT00000453088.1	109	86	0	0.00	0	0	G	NM_014501	0	0		55912864	-1	no_errors	ENST00000264552	ensembl	human	known	74_37	silent	67	56	30.21	34.88	29	30	SNP	0.039	A
ZNF835	90485	genome.wustl.edu	37	19	57175295	57175295	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:57175295G>A	ENST00000537055.2	-	2	1503	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGAAAGCTTTGCCGCACTCGC	0.672																																							0											0													36.0	39.0	38.0					19																	57175295		2195	4300	6495	SO:0001819	synonymous_variant	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1272C>T	19.37:g.57175295G>A			B7Z5Y0|G3V1S0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G424	ENST00000537055.2	37	c.1272	CCDS56105.1	19																																																																																			0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	protein_coding	OTTHUMT00000459800.1	38	48	0	0.00	0	0	G	NM_001005850	0	0		57175295	-1	no_errors	ENST00000537055	ensembl	human	known	74_37	silent	14	42	33.33	31.15	7	19	SNP	0.925	A
USP29	57663	genome.wustl.edu	37	19	57641022	57641022	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:57641022G>A	ENST00000254181.4	+	4	1433	c.979G>A	c.(979-981)Gct>Act	p.A327T	USP29_ENST00000598197.1_Missense_Mutation_p.A327T	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	327	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCTTTGAGGCTCTTATTAT	0.378																																							0											0													89.0	89.0	89.0					19																	57641022		2203	4300	6503	SO:0001583	missense	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.979G>A	19.37:g.57641022G>A	ENSP00000254181:p.Ala327Thr			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.A327T	ENST00000254181.4	37	c.979	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616027	0.46631	.	.	ENSG00000131864	ENST00000254181	T	0.74002	-0.8	2.78	1.73	0.24493	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.028630	0.07814	U	0.958672	T	0.78742	0.4331	L	0.52823	1.66	0.09310	N	1	D	0.58970	0.984	P	0.60236	0.871	T	0.62746	-0.6789	10	0.46703	T	0.11	-0.0501	5.8365	0.18609	0.1504:0.0:0.8496:0.0	.	327	Q9HBJ7	UBP29_HUMAN	T	327	ENSP00000254181:A327T	ENSP00000254181:A327T	A	+	1	0	USP29	62332834	0.989000	0.36119	0.022000	0.16811	0.008000	0.06430	3.548000	0.53670	0.697000	0.31718	-0.150000	0.13652	GCT	0	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.378	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	protein_coding	OTTHUMT00000465075.1	14	249	0	0.00	0	0	G		0	0		57641022	1	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	16	176	20	33.83	4	90	SNP	0.204	A
ZNF419	79744	genome.wustl.edu	37	19	58003604	58003604	+	Intron	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:58003604A>G	ENST00000221735.7	+	4	484				ZNF419_ENST00000415379.2_Intron|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Intron|ZNF419_ENST00000426954.2_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000518999.1_Missense_Mutation_p.E109G|ZNF419_ENST00000424930.2_Intron|ZNF419_ENST00000347466.6_Intron|ZNF419_ENST00000520540.1_Missense_Mutation_p.E96G			Q96HQ0	ZN419_HUMAN	zinc finger protein 419						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAGCTCAGGGAGGTGTGAACT	0.488																																							0											0													119.0	115.0	116.0					19																	58003604		2203	4300	6503	SO:0001627	intron_variant	0			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.298+25A>G	19.37:g.58003604A>G			B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E109G	ENST00000221735.7	37	c.326	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996664	0.35226	.	.	ENSG00000105136	ENST00000520540;ENST00000518999	T;T	0.00949	5.52;5.51	1.94	-1.85	0.07784	.	.	.	.	.	T	0.00695	0.0023	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45963	-0.9225	5	.	.	.	.	2.9487	0.05854	0.4094:0.2517:0.3389:0.0	.	.	.	.	G	96;109	ENSP00000429471:E96G;ENSP00000427723:E109G	.	E	+	2	0	ZNF419	62695416	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.309000	0.08145	-0.651000	0.05415	0.334000	0.21626	GAG	0	NULL		0.488	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	protein_coding	OTTHUMT00000378506.1	121	195	0	0.51	0	1	A	NM_024691	0	0		58003604	1	no_errors	ENST00000518999	ensembl	human	putative	74_37	missense	47	164	34.72	31.82	25	77	SNP	0	G
ZNF419	79744	genome.wustl.edu	37	19	58004926	58004926	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:58004926A>G	ENST00000221735.7	+	5	1187	c.1001A>G	c.(1000-1002)cAg>cGg	p.Q334R	ZNF419_ENST00000415379.2_Missense_Mutation_p.Q288R|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.Q321R|ZNF419_ENST00000426954.2_Missense_Mutation_p.Q322R|ZNF419_ENST00000354197.4_Missense_Mutation_p.Q322R|ZNF419_ENST00000424930.2_Missense_Mutation_p.Q335R|ZNF419_ENST00000347466.6_Missense_Mutation_p.Q302R			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ATGAAACATCAGAGAATTCAC	0.403																																							0											0													67.0	65.0	66.0					19																	58004926		2199	4289	6488	SO:0001583	missense	0			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1001A>G	19.37:g.58004926A>G	ENSP00000221735:p.Gln334Arg		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	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.Q335R	ENST00000221735.7	37	c.1004	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	A	6.497	0.459833	0.12342	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.17691	2.26;2.26;3.2;2.26;2.26;3.2;2.26	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.12746	0.255	0.23492	N	0.997561	B;B;B;B;P;B;P	0.43909	0.007;0.016;0.039;0.016;0.821;0.062;0.821	B;B;B;B;B;B;B	0.38985	0.012;0.036;0.031;0.021;0.287;0.057;0.287	T	0.17349	-1.0372	9	0.45353	T	0.12	.	9.3514	0.38140	1.0:0.0:0.0:0.0	.	288;288;321;322;335;302;334	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	R	309;335;322;322;321;335;302;288;334	ENSP00000388864:Q335R;ENSP00000390916:Q322R;ENSP00000346136:Q322R;ENSP00000414709:Q321R;ENSP00000299860:Q302R;ENSP00000392129:Q288R;ENSP00000221735:Q334R	ENSP00000221735:Q334R	Q	+	2	0	ZNF419	62696738	0.000000	0.05858	0.475000	0.27278	0.742000	0.42306	0.217000	0.17603	1.067000	0.40740	0.164000	0.16699	CAG	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	protein_coding	OTTHUMT00000378506.1	143	158	0.69	0.00	1	0	A	NM_024691	0	0		58004926	1	no_errors	ENST00000424930	ensembl	human	known	74_37	missense	57	147	30.49	30.33	25	64	SNP	0.95	G
ZNF587	84914	genome.wustl.edu	37	19	58371214	58371214	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:58371214C>T	ENST00000339656.5	+	3	1616	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Silent_p.S435S|ZNF587_ENST00000423137.1_Silent_p.S477S|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	478					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.S478R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATAAGCACAGCGTGACTATAC	0.423																																					Pancreas(59;641 1233 1885 20055 50741)		0											1	Substitution - Missense(1)	lung(1)											152.0	146.0	148.0					19																	58371214		2203	4300	6503	SO:0001819	synonymous_variant	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1434C>T	19.37:g.58371214C>T			A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S478	ENST00000339656.5	37	c.1434	CCDS12964.1	19																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	protein_coding	OTTHUMT00000337594.2	61	60	0	0.00	0	0	C	NM_032828	0	0		58371214	1	no_errors	ENST00000339656	ensembl	human	known	74_37	silent	44	35	30.16	36.36	19	20	SNP	0.001	T
ZBTB45	84878	genome.wustl.edu	37	19	59028858	59028858	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:59028858C>T	ENST00000594051.1	-	2	663	c.183G>A	c.(181-183)aaG>aaA	p.K61K	ZBTB45_ENST00000354590.3_Silent_p.K61K|ZBTB45_ENST00000600990.1_Silent_p.K61K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGAGCAGCAGCTTGTCTTGGA	0.632											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)		0											0													42.0	43.0	43.0					19																	59028858		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.183G>A	19.37:g.59028858C>T		1035		Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K61	ENST00000594051.1	37	c.183	CCDS12984.1	19																																																																																			0	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.632	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	protein_coding	OTTHUMT00000467067.1	50	34	0	0.00	0	0	C	NM_032792	0	0		59028858	-1	no_errors	ENST00000354590	ensembl	human	known	74_37	silent	21	32	12	27.27	3	12	SNP	1	T
ZNF343	79175	genome.wustl.edu	37	20	2464361	2464361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:2464361G>A	ENST00000278772.4	-	6	1733	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCC	0.502																																							0											0													109.0	102.0	104.0					20																	2464361		2203	4300	6503	SO:0001587	stop_gained	0			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1246C>T	20.37:g.2464361G>A	ENSP00000278772:p.Arg416*		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R416*	ENST00000278772.4	37	c.1246	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.582227	0.97680	.	.	ENSG00000088876	ENST00000278772	.	.	.	2.64	-3.08	0.05347	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	3.0896	0.06289	0.2634:0.0:0.2653:0.4713	.	.	.	.	X	416	.	ENSP00000278772:R416X	R	-	1	2	ZNF343	2412361	0.004000	0.15560	0.002000	0.10522	0.242000	0.25591	1.042000	0.30303	-0.299000	0.08909	-0.236000	0.12185	CGA	0	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.502	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	protein_coding	OTTHUMT00000077617.1	66	67	0	0.00	0	0	G	NM_024325	0	0		2464361	-1	no_errors	ENST00000278772	ensembl	human	known	74_37	nonsense	50	63	15.25	25.00	9	21	SNP	0.119	A
CPXM1	56265	genome.wustl.edu	37	20	2776648	2776648	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:2776648A>G	ENST00000380605.2	-	10	1466	c.1402T>C	c.(1402-1404)Tac>Cac	p.Y468H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	468					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGCAGGGTGTAGTAAGTGGGC	0.592																																							0											0													148.0	136.0	140.0					20																	2776648		2203	4300	6503	SO:0001583	missense	0			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1402T>C	20.37:g.2776648A>G	ENSP00000369979:p.Tyr468His		Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.Y468H	ENST00000380605.2	37	c.1402	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612033	0.66672	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.05513	3.43	5.18	5.18	0.71444	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.26846	0.0657	M	0.82323	2.585	0.48975	D	0.999733	D	0.89917	1.0	D	0.91635	0.999	T	0.01508	-1.1337	10	0.62326	D	0.03	-22.9111	13.0269	0.58821	1.0:0.0:0.0:0.0	.	468	Q96SM3	CPXM1_HUMAN	H	468;164	ENSP00000369979:Y468H	ENSP00000369979:Y468H	Y	-	1	0	CPXM1	2724648	1.000000	0.71417	0.980000	0.43619	0.751000	0.42716	5.888000	0.69758	2.168000	0.68352	0.460000	0.39030	TAC	0	pfam_Peptidase_M14,smart_Peptidase_M14		0.592	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	protein_coding	OTTHUMT00000077643.2	65	170	0	0.58	0	1	A	NM_019609	0	0		2776648	-1	no_errors	ENST00000380605	ensembl	human	known	74_37	missense	35	137	25.53	25.95	12	48	SNP	1	G
LZTS3	9762	genome.wustl.edu	37	20	3145236	3145236	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:3145236C>T	ENST00000329152.3	-	3	3283	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	LZTS3_ENST00000360342.3_Missense_Mutation_p.R583H|LZTS3_ENST00000337576.5_Missense_Mutation_p.R583H			O60299	LZTS3_HUMAN		629						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											CTGCTGGTTGCGCTGGTACAT	0.677																																							0											0													49.0	44.0	46.0					20																	3145236		2203	4299	6502	SO:0001583	missense	0																														ENST00000329152.3:c.1886G>A	20.37:g.3145236C>T	ENSP00000332123:p.Arg629His		A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	NULL	p.R629H	ENST00000329152.3	37	c.1886	CCDS13049.1	20	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750013	0.69533	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.55413	0.52;0.52;0.52	4.69	4.69	0.59074	.	0.058173	0.64402	D	0.000007	T	0.63236	0.2494	M	0.69358	2.11	0.35712	D	0.816481	D;D	0.76494	0.999;0.999	P;D	0.66602	0.869;0.945	T	0.71083	-0.4695	10	0.51188	T	0.08	-14.3008	5.5658	0.17170	0.0:0.761:0.0:0.239	.	583;629	O60299-2;O60299	.;PRIP1_HUMAN	H	629;583;583	ENSP00000332123:R629H;ENSP00000353496:R583H;ENSP00000338166:R583H	ENSP00000332123:R629H	R	-	2	0	RP5-1187M17.10	3093236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.276000	0.51646	2.442000	0.82660	0.555000	0.69702	CGC	0	NULL		0.677	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS3	protein_coding	OTTHUMT00000077715.2	11	37	0	0.00	0	0	C		0	0		3145236	-1	no_errors	ENST00000329152	ensembl	human	known	74_37	missense	13	43	38.1	27.12	8	16	SNP	1	T
LRRN4	164312	genome.wustl.edu	37	20	6032917	6032917	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:6032917G>T	ENST00000378858.4	-	2	753	c.529C>A	c.(529-531)Ctc>Atc	p.L177I		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	177					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGCAGGAGAGGTTGAGGAGC	0.751																																							0											0													3.0	3.0	3.0					20																	6032917		1956	3811	5767	SO:0001583	missense	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.529C>A	20.37:g.6032917G>T	ENSP00000368135:p.Leu177Ile		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L177I	ENST00000378858.4	37	c.529	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967816	0.53507	.	.	ENSG00000125872	ENST00000378858	T	0.74421	-0.84	5.08	3.09	0.35607	.	0.000000	0.50627	D	0.000107	T	0.79209	0.4407	L	0.48986	1.54	0.36177	D	0.849156	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.992	T	0.81263	-0.1012	10	0.52906	T	0.07	-23.1676	7.2649	0.26224	0.1481:0.0:0.714:0.1379	.	177;177	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	I	177	ENSP00000368135:L177I	ENSP00000368135:L177I	L	-	1	0	LRRN4	5980917	1.000000	0.71417	0.976000	0.42696	0.040000	0.13550	2.225000	0.42954	1.259000	0.44117	0.563000	0.77884	CTC	0	NULL		0.751	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	protein_coding	OTTHUMT00000077907.2	10	5	0	0.00	0	0	G	NM_152611	0	0		6032917	-1	no_errors	ENST00000378858	ensembl	human	known	74_37	missense	0	6	100	33.33	2	3	SNP	0.997	T
SSTR4	6754	genome.wustl.edu	37	20	23016417	23016417	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:23016417C>T	ENST00000255008.3	+	1	361	c.297C>T	c.(295-297)agC>agT	p.S99S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	99					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCATGCTGAGCGTGCCCTTCG	0.637																																					Esophageal Squamous(15;850 1104 16640)		0											0													106.0	109.0	108.0					20																	23016417		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.297C>T	20.37:g.23016417C>T			Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.S99	ENST00000255008.3	37	c.297	CCDS42856.1	20																																																																																			0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Neuropept_B/W_rcpt		0.637	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	protein_coding	OTTHUMT00000078308.1	29	25	0	0.00	0	0	C		0	0		23016417	1	no_errors	ENST00000255008	ensembl	human	known	74_37	silent	7	20	41.67	20.00	5	5	SNP	0.906	T
KIF3B	9371	genome.wustl.edu	37	20	30915423	30915423	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:30915423G>A	ENST00000375712.3	+	7	2094	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	KIF3B_ENST00000418717.2_Missense_Mutation_p.A269T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	643	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCCAGCACGCAAGAATGTC	0.488																																							0											0													128.0	112.0	117.0					20																	30915423		2203	4300	6503	SO:0001583	missense	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1927G>A	20.37:g.30915423G>A	ENSP00000364864:p.Ala643Thr		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A643T	ENST00000375712.3	37	c.1927	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.497637	0.96355	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.76186	-1.0;0.26	5.32	5.32	0.75619	.	0.055089	0.64402	D	0.000001	D	0.85366	0.5680	M	0.85041	2.73	0.80722	D	1	D;D	0.63046	0.989;0.992	P;P	0.55667	0.51;0.781	D	0.86068	0.1536	10	0.51188	T	0.08	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	269;643	B4DSR5;O15066	.;KIF3B_HUMAN	T	643;269	ENSP00000364864:A643T;ENSP00000406287:A269T	ENSP00000364864:A643T	A	+	1	0	KIF3B	30379084	1.000000	0.71417	0.794000	0.32065	0.878000	0.50629	9.118000	0.94355	2.941000	0.99782	0.655000	0.94253	GCA	0	NULL		0.488	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	protein_coding	OTTHUMT00000078619.1	19	254	0	0.00	0	0	G	NM_004798	0	0		30915423	1	no_errors	ENST00000375712	ensembl	human	known	74_37	missense	16	141	15.79	34.42	3	74	SNP	1	A
GGT7	2686	genome.wustl.edu	37	20	33438722	33438722	+	Intron	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:33438722T>C	ENST00000336431.5	-	13	1770				GGT7_ENST00000469018.1_Splice_Site	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						ATTCAGATGCTGGGTAGAGGT	0.498																																							0											0													46.0	43.0	44.0					20																	33438722		1567	3582	5149	SO:0001627	intron_variant	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1725+311A>G	20.37:g.33438722T>C			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Splice_Site	SNP	0	NULL	ENST00000336431.5	37	c.NULL	CCDS13242.2	20																																																																																			0	0		0.498	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	protein_coding	OTTHUMT00000078816.2	50	266	0	0.00	0	0	T	NM_178026	0	0		33438722	-1	no_errors	ENST00000469018	ensembl	human	known	74_37	splice_site	28	235	22.22	24.92	8	78	SNP	0	C
GDF5	8200	genome.wustl.edu	37	20	34022399	34022399	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:34022399G>A	ENST00000374372.1	-	4	1317	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	GDF5_ENST00000374369.3_Missense_Mutation_p.R272W|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R148Q			P43026	GDF5_HUMAN	growth differentiation factor 5	272					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCCGGCTGCCGGCCGCTGGGG	0.672																																							0											0													10.0	13.0	12.0					20																	34022399		2122	4224	6346	SO:0001583	missense	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.814C>T	20.37:g.34022399G>A	ENSP00000363492:p.Arg272Trp		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R272W	ENST00000374372.1	37	c.814	CCDS13254.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.89|13.89	2.372451|2.372451	0.42003|0.42003	.|.	.|.	ENSG00000204183|ENSG00000125965	ENST00000374375|ENST00000374369;ENST00000374372	.|T;T	.|0.65364	.|-0.15;-0.15	4.56|4.56	4.56|4.56	0.56223|0.56223	.|Transforming growth factor-beta, N-terminal (1);	0.281432|0.281432	0.28921|0.28921	N|N	0.013708|0.013708	T|T	0.50565|0.50565	0.1623|0.1623	L|L	0.47716|0.47716	1.5|1.5	0.46260|0.46260	D|D	0.99895|0.99895	.|B;B	.|0.32829	.|0.386;0.081	.|B;B	.|0.20577	.|0.03;0.009	T|T	0.54735|0.54735	-0.8249|-0.8249	7|10	0.87932|0.46703	D|T	0|0.11	.|.	11.9803|11.9803	0.53115|0.53115	0.0:0.0:0.718:0.282|0.0:0.0:0.718:0.282	.|.	.|272;272	.|F1T0J1;P43026	.|.;GDF5_HUMAN	Q|W	148|272	.|ENSP00000363489:R272W;ENSP00000363492:R272W	ENSP00000363495:R148Q|ENSP00000363489:R272W	R|R	+|-	2|1	0|2	GDF5OS|GDF5	33485813|33485813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.767000|1.767000	0.38501|0.38501	2.353000|2.353000	0.79882|0.79882	0.491000|0.491000	0.48974|0.48974	CGG|CGG	0	pfam_TGF-b_N		0.672	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	protein_coding	OTTHUMT00000078875.2	26	10	0	0.00	0	0	G		0	0		34022399	-1	no_errors	ENST00000374369	ensembl	human	known	74_37	missense	15	6	44.44	57.14	12	8	SNP	1	A
TTI1	9675	genome.wustl.edu	37	20	36625224	36625224	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:36625224C>T	ENST00000373448.2	-	7	3163	c.2925G>A	c.(2923-2925)tcG>tcA	p.S975S	TTI1_ENST00000373447.3_Silent_p.S975S|TTI1_ENST00000449821.1_Silent_p.S975S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	975					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCAGCGTGTGCGAGTAAACTG	0.602																																							0											0													102.0	106.0	104.0					20																	36625224		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2925G>A	20.37:g.36625224C>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.S975	ENST00000373448.2	37	c.2925	CCDS13300.1	20																																																																																			0	superfamily_ARM-type_fold,pirsf_UCP005250		0.602	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	protein_coding	OTTHUMT00000079138.2	44	105	0	0.00	0	0	C	NM_014657	0	0		36625224	-1	no_errors	ENST00000373447	ensembl	human	known	74_37	silent	23	84	20.69	24.32	6	27	SNP	0.993	T
TOP1	7150	genome.wustl.edu	37	20	39690075	39690075	+	Silent	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:39690075C>A	ENST00000361337.2	+	3	350	c.100C>A	c.(100-102)Cgg>Agg	p.R34R		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	34	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	tCGAGAACACCGGCACAAAGA	0.438			T	NUP98	AML*																																		0		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													104.0	94.0	97.0					20																	39690075		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.100C>A	20.37:g.39690075C>A			A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.R34	ENST00000361337.2	37	c.100	CCDS13312.1	20																																																																																			0	NULL		0.438	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	protein_coding	OTTHUMT00000080397.2	78	181	0	0.00	0	0	C		0	0		39690075	1	no_errors	ENST00000361337	ensembl	human	known	74_37	silent	48	181	9.43	6.22	5	12	SNP	1	A
CHD6	84181	genome.wustl.edu	37	20	40033425	40033425	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:40033425G>A	ENST00000373233.3	-	37	8133	c.7956C>T	c.(7954-7956)agC>agT	p.S2652S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2652					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCTCTTCTGGCTCTCCAGAC	0.567																																							0											0													57.0	63.0	61.0					20																	40033425		2203	4300	6503	SO:0001819	synonymous_variant	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7956C>T	20.37:g.40033425G>A			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S2652	ENST00000373233.3	37	c.7956	CCDS13317.1	20																																																																																			0	NULL		0.567	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	33	92	0	0.00	0	0	G		0	0		40033425	-1	no_errors	ENST00000373233	ensembl	human	known	74_37	silent	19	69	20.83	31.07	5	32	SNP	1	A
TSHZ2	128553	genome.wustl.edu	37	20	51871248	51871248	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:51871248G>T	ENST00000371497.5	+	2	2138	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.K414N|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K414N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	417					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAAAGGGAAGCAGCTGGTAT	0.532																																							0											0													118.0	116.0	117.0					20																	51871248		2203	4300	6503	SO:0001583	missense	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1251G>T	20.37:g.51871248G>T	ENSP00000360552:p.Lys417Asn		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.K417N	ENST00000371497.5	37	c.1251	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303073	0.60195	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.29397	1.57;1.57	5.95	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27536	-1.0071	10	0.87932	D	0	-16.313	9.3989	0.38420	0.2135:0.0:0.7865:0.0	.	417	Q9NRE2	TSH2_HUMAN	N	417;414	ENSP00000360552:K417N;ENSP00000333114:K414N	ENSP00000333114:K414N	K	+	3	2	TSHZ2	51304655	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.971000	0.49248	1.512000	0.48834	0.643000	0.83706	AAG	0	NULL		0.532	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	protein_coding	OTTHUMT00000080398.6	40	149	0	0.00	0	0	G	NM_173485	0	0		51871248	1	no_errors	ENST00000371497	ensembl	human	known	74_37	missense	14	113	46.15	29.38	12	47	SNP	1	T
MIR1257	100302168	genome.wustl.edu	37	20	60528652	60528652	+	RNA	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:60528652C>T	ENST00000408490.1	-	0	66					NR_031658.1				microRNA 1257																		gccaGTGATGCCAGGGGCCCA	0.642																																							0											0													18.0	22.0	21.0					20																	60528652		1511	3470	4981			0					20q13.33	2011-09-12		2008-12-18	ENSG00000221417	ENSG00000221417		"""ncRNAs / Micro RNAs"""	35322	non-coding RNA	RNA, micro				MIRN1257			Standard	NR_031658		Approved	hsa-mir-1257	uc021wfv.1				20.37:g.60528652C>T				RNA	SNP	0	NULL	ENST00000408490.1	37	NULL		20																																																																																			0	0		0.642	MIR1257-201	KNOWN	basic	miRNA	MIR1257	miRNA		33	51	0	0.00	0	0	C	NR_031658	0	0		60528652	-1	no_errors	ENST00000408490	ensembl	human	known	74_37	rna	24	37	20	17.39	6	8	SNP	0.022	T
LAMA5	3911	genome.wustl.edu	37	20	60921237	60921237	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:60921237G>A	ENST00000252999.3	-	10	1383	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	LAMA5_ENST00000370677.3_Silent_p.T439T|LAMA5_ENST00000370692.3_Silent_p.T439T	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	439	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTCCTCGCAGGTGCCATCCG	0.647																																							0											0													47.0	39.0	42.0					20																	60921237		2200	4296	6496	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1317C>T	20.37:g.60921237G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T439	ENST00000252999.3	37	c.1317	CCDS33502.1	20																																																																																			0	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	26	73	0	0.00	0	0	G	NM_005560	0	0		60921237	-1	no_errors	ENST00000252999	ensembl	human	known	74_37	silent	29	55	30.95	26.67	13	20	SNP	0.996	A
JAM2	58494	genome.wustl.edu	37	21	27066109	27066109	+	Missense_Mutation	SNP	C	C	T	rs372458284		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:27066109C>T	ENST00000480456.1	+	4	833	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	JAM2_ENST00000425221.2_Missense_Mutation_p.R59W|JAM2_ENST00000312957.5_Missense_Mutation_p.R95W|JAM2_ENST00000400532.1_Missense_Mutation_p.R95W	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	95	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTTCAATATCCGGATCAAAAA	0.378																																							0											0								C	TRP/ARG	1,3735		0,1,1867	129.0	126.0	127.0		283	3.6	1.0	21		127	0,8208		0,0,4104	no	missense	JAM2	NM_021219.2	101	0,1,5971	TT,TC,CC		0.0,0.0268,0.0084	possibly-damaging	95/299	27066109	1,11943	1868	4104	5972	SO:0001583	missense	0			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.283C>T	21.37:g.27066109C>T	ENSP00000420419:p.Arg95Trp		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R95W	ENST00000480456.1	37	c.283	CCDS42911.1	21	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406580	0.42715	2.68E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.56	3.59	0.41128	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122923	0.52532	D	0.000074	T	0.60038	0.2238	L	0.51422	1.61	0.35184	D	0.772742	P;P;P;P;P	0.45428	0.685;0.858;0.858;0.67;0.735	B;B;B;B;B	0.40565	0.189;0.333;0.333;0.165;0.244	T	0.73597	-0.3932	10	0.56958	D	0.05	.	12.7206	0.57140	0.3091:0.6909:0.0:0.0	.	59;95;95;95;95	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	W	95;95;95;95;95;59	ENSP00000420419:R95W;ENSP00000383376:R95W;ENSP00000318416:R95W;ENSP00000392611:R59W	ENSP00000318416:R95W	R	+	1	2	JAM2	25987980	0.778000	0.28640	0.998000	0.56505	0.840000	0.47671	0.863000	0.27913	1.550000	0.49438	0.655000	0.94253	CGG	0	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.378	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JAM2	protein_coding	OTTHUMT00000171347.1	102	200	0	0.00	0	0	C		rs372458284	C->T		27066109	1	no_errors	ENST00000312957	ensembl	human	known	74_37	missense	60	201	31.03	25.28	27	68	SNP	0.962	T
SON	6651	genome.wustl.edu	37	21	34926132	34926132	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:34926132T>C	ENST00000356577.4	+	3	5070	c.4595T>C	c.(4594-4596)aTa>aCa	p.I1532T	SON_ENST00000290239.6_Missense_Mutation_p.I1532T|SON_ENST00000300278.4_Missense_Mutation_p.I1532T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.I1532T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1532					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGTATAAATATAGACCTTAAT	0.383																																							0											0													45.0	49.0	48.0					21																	34926132		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4595T>C	21.37:g.34926132T>C	ENSP00000348984:p.Ile1532Thr		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.I1532T	ENST00000356577.4	37	c.4595	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.231|0.231	-1.020698|-1.020698	0.02061|0.02061	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.12255|.	2.87;2.87;2.87;2.7|.	5.55|5.55	-6.13|-6.13	0.02118|0.02118	.|.	1.289600|.	0.05033|.	N|.	0.474964|.	T|.	0.17831|.	0.0428|.	N|N	0.13235|0.13235	0.315|0.315	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.20164|.	0.001;0.0;0.0;0.0;0.042|.	B;B;B;B;B|.	0.18263|.	0.001;0.0;0.0;0.0;0.021|.	T|.	0.33059|.	-0.9883|.	10|.	0.12103|.	T|.	0.63|.	.|.	8.3202|8.3202	0.32124|0.32124	0.0:0.5063:0.2228:0.2709|0.0:0.5063:0.2228:0.2709	.|.	1532;1532;1213;1532;1532|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	T|Q	1532|527	ENSP00000348984:I1532T;ENSP00000290239:I1532T;ENSP00000300278:I1532T;ENSP00000371095:I1532T|.	ENSP00000290239:I1532T|.	I|X	+|+	2|1	0|0	SON|SON	33848002|33848002	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.465000|0.465000	0.32709|0.32709	-1.393000|-1.393000	0.02521|0.02521	-0.995000|-0.995000	0.03459|0.03459	-0.326000|-0.326000	0.08463|0.08463	ATA|TAG	0	NULL		0.383	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	protein_coding	OTTHUMT00000140978.2	68	212	0	0.00	0	0	T	NM_138927	0	0		34926132	1	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	33	159	34	32.49	17	77	SNP	0	C
MORC3	23515	genome.wustl.edu	37	21	37732258	37732258	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:37732258G>A	ENST00000400485.1	+	11	1290	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	AP000692.9_ENST00000397184.2_RNA|MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	405					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GACAGGAAGCGTCCTGATCAG	0.398																																							0											0													177.0	168.0	171.0					21																	37732258		2027	4211	6238	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1214G>A	21.37:g.37732258G>A	ENSP00000383333:p.Arg405His		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.R405H	ENST00000400485.1	37	c.1214	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492017	0.44352	.	.	ENSG00000159256	ENST00000400485	T	0.18960	2.18	5.56	5.56	0.83823	Zinc finger, CW-type (1);	0.245292	0.40222	N	0.001150	T	0.15478	0.0373	L	0.36672	1.1	0.80722	D	1	B	0.25809	0.135	B	0.17979	0.02	T	0.05194	-1.0900	10	0.39692	T	0.17	-10.7049	8.3078	0.32053	0.0835:0.0:0.76:0.1565	.	405	Q14149	MORC3_HUMAN	H	405	ENSP00000383333:R405H	ENSP00000383333:R405H	R	+	2	0	MORC3	36654128	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.345000	0.52182	2.608000	0.88229	0.460000	0.39030	CGT	0	pfscan_Znf_CW		0.398	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	protein_coding	OTTHUMT00000194640.1	85	239	0	0.41	0	1	G	NM_015358	0	0		37732258	1	no_errors	ENST00000400485	ensembl	human	known	74_37	missense	33	182	37.74	30.27	20	79	SNP	0.992	A
DSCR3	10311	genome.wustl.edu	37	21	38600536	38600536	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:38600536C>T	ENST00000309117.6	-	6	883	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	DSCR3_ENST00000398998.1_Missense_Mutation_p.V168M|DSCR3_ENST00000539844.1_Missense_Mutation_p.V139M|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Missense_Mutation_p.V189M|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399001.1_Missense_Mutation_p.V91M|DSCR3_ENST00000288304.5_Missense_Mutation_p.R173H	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	216						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CACGTCTCCACGCGCACCAGC	0.637																																							0											0													72.0	67.0	69.0					21																	38600536		2203	4300	6503	SO:0001583	missense	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.646G>A	21.37:g.38600536C>T	ENSP00000311399:p.Val216Met		B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	p.V216M	ENST00000309117.6	37	c.646	CCDS33553.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.314238|4.314238	0.81358|0.81358	.|.	.|.	ENSG00000157538|ENSG00000157538	ENST00000471543;ENST00000288304|ENST00000309117;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.062478	.|0.64402	.|D	.|0.000006	T|T	0.81138|0.81138	0.4760|0.4760	M|M	0.80422|0.80422	2.495|2.495	0.34990|0.34990	D|D	0.75494|0.75494	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.80764	.|0.984;0.994;0.991;0.969	D|D	0.86596|0.86596	0.1863|0.1863	6|9	0.72032|0.72032	D|D	0.01|0.01	0.148|0.148	19.3643|19.3643	0.94456|0.94456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;139;189;216	.|A8MY26;B7Z606;B7Z6B1;O14972	.|.;.;.;DSCR3_HUMAN	H|M	21;173|216;139;91;189;168	.|.	ENSP00000288304:R173H|ENSP00000311399:V216M	R|V	-|-	2|1	0|0	DSCR3|DSCR3	37522406|37522406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.741000|7.741000	0.84997|0.84997	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGT|GTG	0	pfam_VPS26		0.637	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	protein_coding	OTTHUMT00000194807.1	23	31	0	0.00	0	0	C		0	0		38600536	-1	no_errors	ENST00000309117	ensembl	human	known	74_37	missense	11	32	26.67	25.58	4	11	SNP	1	T
DSCAM	1826	genome.wustl.edu	37	21	41446994	41446994	+	Silent	SNP	G	G	T	rs201077680	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:41446994G>T	ENST00000400454.1	-	27	5335	c.4858C>A	c.(4858-4860)Cgg>Agg	p.R1620R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1620					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCTCCCGCCGCCTCCTCCGC	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		16671	0.0		0.0	False		,,,				2504	0.002				Melanoma(134;970 1778 1785 21664 32388)		0.9996,0.0003994											0								G		0,4224		0,0,2112	67.0	83.0	78.0		4858	-0.5	0.3	21		78	7,8423		0,7,4208	no	coding-synonymous	DSCAM	NM_001389.3		0,7,6320	TT,TG,GG		0.083,0.0,0.0553		1620/2013	41446994	7,12647	2112	4215	6327	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4858C>A	21.37:g.41446994G>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1620	ENST00000400454.1	37	c.4858	CCDS42929.1	21																																																																																			0	NULL		0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	57	56	0	0.00	0	0	G	NM_001389	rs201077680	G->T		41446994	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	22	47	43.59	22.95	17	14	SNP	0.998	T
ABCG1	9619	genome.wustl.edu	37	21	43710176	43710176	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:43710176G>A	ENST00000361802.2	+	11	1422	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	ABCG1_ENST00000398457.2_Missense_Mutation_p.R416H|ABCG1_ENST00000347800.2_Missense_Mutation_p.R411H|ABCG1_ENST00000340588.4_Missense_Mutation_p.R534H|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.R414H|ABCG1_ENST00000343687.3_Missense_Mutation_p.R425H|ABCG1_ENST00000398437.1_Missense_Mutation_p.R572H	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	426	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACACACCTGCGCATCACCTCG	0.597																																							0											0													150.0	109.0	123.0					21																	43710176		2203	4300	6503	SO:0001583	missense	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1277G>A	21.37:g.43710176G>A	ENSP00000354995:p.Arg426His		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.R572H	ENST00000361802.2	37	c.1715	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991188	0.93106	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.7	4.7	0.59300	ABC-2 type transporter (1);	0.065617	0.64402	N	0.000015	D	0.86331	0.5907	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.993;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.998;0.924;1.0;0.997;0.997;0.994	D	0.87056	0.2150	9	.	.	.	-31.7011	18.0024	0.89201	0.0:0.0:1.0:0.0	.	437;425;426;414;411;416	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	H	416;411;414;426;425;572;534	ENSP00000381475:R416H;ENSP00000291524:R411H;ENSP00000381467:R414H;ENSP00000354995:R426H;ENSP00000339744:R425H;ENSP00000381464:R572H;ENSP00000343820:R534H	.	R	+	2	0	ABCG1	42583245	1.000000	0.71417	0.996000	0.52242	0.819000	0.46315	9.390000	0.97246	2.329000	0.79093	0.563000	0.77884	CGC	0	pfam_ABC_2_trans,tigrfam_Pigment_permease		0.597	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	protein_coding	OTTHUMT00000195318.2	70	142	1.41	0.70	1	1	G	NM_207174	0	0		43710176	1	no_errors	ENST00000398437	ensembl	human	known	74_37	missense	22	111	31.25	18.98	10	26	SNP	1	A
PDE9A	5152	genome.wustl.edu	37	21	44163955	44163955	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:44163955C>T	ENST00000291539.6	+	8	698	c.638C>T	c.(637-639)gCg>gTg	p.A213V	PDE9A_ENST00000380328.2_Missense_Mutation_p.A160V|PDE9A_ENST00000349112.3_Missense_Mutation_p.A85V|PDE9A_ENST00000398229.3_Missense_Mutation_p.A79V|PDE9A_ENST00000398234.3_Missense_Mutation_p.A112V|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.A127V|PDE9A_ENST00000398225.3_Missense_Mutation_p.A172V|PDE9A_ENST00000398227.3_Missense_Mutation_p.A53V|PDE9A_ENST00000328862.6_Missense_Mutation_p.A187V|PDE9A_ENST00000398224.3_Missense_Mutation_p.A86V|PDE9A_ENST00000335512.4_Missense_Mutation_p.A153V|PDE9A_ENST00000335440.6_Missense_Mutation_p.A111V|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398232.3_Missense_Mutation_p.A146V|PDE9A_ENST00000539837.1_Missense_Mutation_p.A85V	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	213					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAGGAGCTGGCGGCCAGAAGC	0.607																																							0											0													69.0	62.0	65.0					21																	44163955		2200	4295	6495	SO:0001583	missense	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.638C>T	21.37:g.44163955C>T	ENSP00000291539:p.Ala213Val		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A213V	ENST00000291539.6	37	c.638	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663667	0.47572	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.33;-0.31;-0.31;-0.33;-0.35;-0.31;-0.31;-0.34;-0.33;-0.31;-0.31;-0.31;-0.31;-0.31	5.27	5.27	0.74061	.	0.263447	0.16525	U	0.210638	T	0.51176	0.1659	N	0.24115	0.695	0.46823	D	0.999217	B;P;B;B;B;P;B;B;B;B;B;P;B;B;B	0.35793	0.085;0.521;0.085;0.085;0.209;0.521;0.276;0.085;0.276;0.085;0.145;0.521;0.085;0.085;0.133	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30646	0.016;0.041;0.021;0.021;0.095;0.118;0.04;0.021;0.024;0.027;0.016;0.068;0.062;0.016;0.029	T	0.49495	-0.8934	10	0.17832	T	0.49	.	16.6863	0.85309	0.0:1.0:0.0:0.0	.	85;146;127;112;187;172;105;153;53;79;85;111;160;86;213	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	V	153;85;213;160;146;112;127;187;111;172;79;53;85;86	ENSP00000335242:A153V;ENSP00000441899:A85V;ENSP00000291539:A213V;ENSP00000369685:A160V;ENSP00000381287:A146V;ENSP00000381289:A112V;ENSP00000381291:A127V;ENSP00000328699:A187V;ENSP00000335365:A111V;ENSP00000381281:A172V;ENSP00000381285:A79V;ENSP00000381283:A53V;ENSP00000344730:A85V;ENSP00000381280:A86V	ENSP00000291539:A213V	A	+	2	0	PDE9A	43037024	0.999000	0.42202	0.983000	0.44433	0.801000	0.45260	4.494000	0.60347	2.459000	0.83118	0.591000	0.81541	GCG	0	NULL		0.607	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	protein_coding	OTTHUMT00000195466.1	19	69	0	0.00	0	0	C		0	0		44163955	1	no_errors	ENST00000291539	ensembl	human	known	74_37	missense	15	58	25	28.05	5	23	SNP	0.998	T
MCM3AP	8888	genome.wustl.edu	37	21	47697536	47697536	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr21:47697536C>T	ENST00000397708.1	-	6	2017	c.1763G>A	c.(1762-1764)tGt>tAt	p.C588Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.C588Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	588					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGAGAGCACACATGGCCCGAG	0.557																																							0											0													146.0	125.0	132.0					21																	47697536		2203	4300	6503	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1763G>A	21.37:g.47697536C>T	ENSP00000380820:p.Cys588Tyr		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.C588Y	ENST00000397708.1	37	c.1763	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613789	0.28712	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03358	3.96;3.96	5.54	3.66	0.41972	.	0.518346	0.23083	N	0.052128	T	0.06050	0.0157	L	0.44542	1.39	0.09310	N	1	P	0.49696	0.927	P	0.46275	0.51	T	0.23332	-1.0191	10	0.44086	T	0.13	-6.6161	13.2078	0.59807	0.0:0.4788:0.5212:0.0	.	588	O60318	MCM3A_HUMAN	Y	588	ENSP00000380820:C588Y;ENSP00000291688:C588Y	ENSP00000291688:C588Y	C	-	2	0	MCM3AP	46521964	0.053000	0.20554	0.390000	0.26220	0.008000	0.06430	2.483000	0.45233	1.320000	0.45209	0.655000	0.94253	TGT	0	NULL		0.557	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	protein_coding	OTTHUMT00000207254.1	41	60	0	0.00	0	0	C	NM_003906	0	0		47697536	-1	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	26	56	33.33	24.32	13	18	SNP	0.018	T
GNAZ	2781	genome.wustl.edu	37	22	23437978	23437978	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:23437978C>T	ENST00000248996.4	+	2	762	c.96C>T	c.(94-96)cgC>cgT	p.R32R	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	32					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGCAACGCCGCGAAATCAAGC	0.597																																							0											0													69.0	72.0	71.0					22																	23437978		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.96C>T	22.37:g.23437978C>T			B2R6C1|Q4QRJ6	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.R32	ENST00000248996.4	37	c.96	CCDS13804.1	22																																																																																			0	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su		0.597	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	protein_coding	OTTHUMT00000319073.1	33	25	0	0.00	0	0	C	NM_002073	0	0		23437978	1	no_errors	ENST00000248996	ensembl	human	known	74_37	silent	28	31	26.32	32.61	10	15	SNP	0.004	T
MORC2	22880	genome.wustl.edu	37	22	31328601	31328601	+	Missense_Mutation	SNP	C	C	T	rs202243108		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:31328601C>T	ENST00000397641.3	-	23	3086	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	MORC2_ENST00000215862.4_Missense_Mutation_p.R831H|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	893						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AGGCTCAATGCGGAGGCATTC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		19443	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													120.0	93.0	102.0					22																	31328601		2203	4300	6503	SO:0001583	missense	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2678G>A	22.37:g.31328601C>T	ENSP00000380763:p.Arg893His		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.R893H	ENST00000397641.3	37	c.2678		22	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.666	1.145452	0.21288	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12361	2.7;2.69	5.95	0.984	0.19773	.	0.466272	0.24245	N	0.040222	T	0.11495	0.0280	L	0.36672	1.1	0.24535	N	0.994097	P	0.49358	0.923	B	0.37346	0.247	T	0.15723	-1.0427	10	0.44086	T	0.13	.	18.4457	0.90682	0.0:0.5057:0.4943:0.0	.	893	Q9Y6X9	MORC2_HUMAN	H	893;831	ENSP00000380763:R893H;ENSP00000215862:R831H	ENSP00000215862:R831H	R	-	2	0	MORC2	29658601	0.996000	0.38824	0.318000	0.25279	0.039000	0.13416	1.518000	0.35877	0.351000	0.24027	0.655000	0.94253	CGC	0	NULL		0.607	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	protein_coding	OTTHUMT00000321710.2	58	123	0	0.00	0	0	C	NM_014941	rs202243108	C->T		31328601	-1	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	24	105	28.57	31.82	10	49	SNP	0.363	T
TIMP3	7078	genome.wustl.edu	37	22	33253242	33253242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:33253242C>T	ENST00000266085.6	+	3	512	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	71	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						ACAGATGTACCGAGGCTTCAC	0.498																																							0											0													132.0	109.0	117.0					22																	33253242		2203	4300	6503	SO:0001587	stop_gained	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.211C>T	22.37:g.33253242C>T	ENSP00000266085:p.Arg71*		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Nonsense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.R71*	ENST00000266085.6	37	c.211	CCDS13911.1	22	.	.	.	.	.	.	.	.	.	.	C	38	7.103878	0.98066	.	.	ENSG00000100234	ENST00000266085;ENST00000538671;ENST00000382049	.	.	.	5.62	4.52	0.55395	.	0.058891	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.6311	0.76908	0.1843:0.8157:0.0:0.0	.	.	.	.	X	71;5;71	.	ENSP00000266085:R71X	R	+	1	2	TIMP3	31583242	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.232000	0.51302	2.637000	0.89404	0.561000	0.74099	CGA	0	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.498	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	protein_coding	OTTHUMT00000075672.2	64	220	0	0.00	0	0	C	NM_000362	0	0		33253242	1	no_errors	ENST00000266085	ensembl	human	known	74_37	nonsense	27	181	27.03	28.35	10	72	SNP	1	T
MPST	4357	genome.wustl.edu	37	22	37420809	37420809	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:37420809G>A	ENST00000397225.2	+	2	1468	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	MPST_ENST00000429360.2_Missense_Mutation_p.A185T|MPST_ENST00000401419.3_Missense_Mutation_p.A185T|MPST_ENST00000404393.1_Missense_Mutation_p.A185T|MPST_ENST00000341116.3_Missense_Mutation_p.A185T|MPST_ENST00000404802.3_Missense_Mutation_p.A185T|MPST_ENST00000397129.1_Missense_Mutation_p.A205T			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	185	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GGACTCCCGAGCCACTGGCAG	0.692																																							0											0													11.0	14.0	13.0					22																	37420809		1986	3942	5928	SO:0001583	missense	0			X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.553G>A	22.37:g.37420809G>A	ENSP00000380402:p.Ala185Thr		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.A205T	ENST00000397225.2	37	c.613	CCDS13939.1	22	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519276	0.44866	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.46451	1.85;1.85;1.85;1.85;1.85;0.87;1.85	5.77	3.65	0.41850	Rhodanese-like (5);	0.335552	0.35262	N	0.003327	T	0.39627	0.1085	L	0.45422	1.42	0.09310	N	1	B;B;P;B;P	0.50943	0.402;0.402;0.906;0.402;0.94	B;B;B;B;B	0.43478	0.149;0.149;0.151;0.149;0.421	T	0.31752	-0.9932	10	0.72032	D	0.01	-13.2695	15.1849	0.72993	0.0:0.0:0.7429:0.2571	.	185;185;185;185;205	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	T	185;205;185;185;185;185;185;185	ENSP00000384812:A185T;ENSP00000380318:A205T;ENSP00000383950:A185T;ENSP00000342333:A185T;ENSP00000411719:A185T;ENSP00000385062:A185T;ENSP00000380402:A185T	ENSP00000342333:A185T	A	+	1	0	MPST	35750755	0.001000	0.12720	0.092000	0.20876	0.278000	0.26855	0.390000	0.20768	0.760000	0.33108	0.561000	0.74099	GCC	0	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.692	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MPST	protein_coding	OTTHUMT00000318832.1	51	89	0	0.00	0	0	G	NM_001013440	0	0		37420809	1	no_errors	ENST00000397129	ensembl	human	known	74_37	missense	38	45	15.56	31.34	7	21	SNP	0.025	A
GGA1	26088	genome.wustl.edu	37	22	38025516	38025516	+	Nonsense_Mutation	SNP	G	G	T	rs377214761		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:38025516G>T	ENST00000343632.4	+	12	1527	c.1141G>T	c.(1141-1143)Gga>Tga	p.G381*	GGA1_ENST00000381756.5_Nonsense_Mutation_p.G398*|GGA1_ENST00000325180.8_Nonsense_Mutation_p.G294*|GGA1_ENST00000337437.4_Nonsense_Mutation_p.G348*|GGA1_ENST00000406772.1_Nonsense_Mutation_p.G308*	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	381	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGATGGTACCGGATGGAACAG	0.612																																							0											0													70.0	56.0	61.0					22																	38025516		2203	4300	6503	SO:0001587	stop_gained	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1141G>T	22.37:g.38025516G>T	ENSP00000341344:p.Gly381*		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Nonsense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.G381*	ENST00000343632.4	37	c.1141	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.053725	0.97241	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	.	.	.	5.11	5.11	0.69529	.	0.068153	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-13.8835	16.7009	0.85349	0.0:0.0:1.0:0.0	.	.	.	.	X	381;398;294;348;308	.	ENSP00000321288:G294X	G	+	1	0	GGA1	36355462	1.000000	0.71417	0.787000	0.31911	0.830000	0.47004	4.718000	0.61930	2.359000	0.80004	0.407000	0.27541	GGA	0	NULL		0.612	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	protein_coding	OTTHUMT00000075873.3	35	188	0	0.00	0	0	G	NM_013365	0	0		38025516	1	no_errors	ENST00000343632	ensembl	human	known	74_37	nonsense	25	147	13.79	28.16	4	58	SNP	0.921	T
TRIOBP	11078	genome.wustl.edu	37	22	38121513	38121513	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:38121513G>A	ENST00000406386.3	+	7	3205	c.2950G>A	c.(2950-2952)Ggc>Agc	p.G984S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	984					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCATAACCCAGGCCACCAGAG	0.647																																							0											0													132.0	151.0	145.0					22																	38121513		2046	4192	6238	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2950G>A	22.37:g.38121513G>A	ENSP00000384312:p.Gly984Ser		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G984S	ENST00000406386.3	37	c.2950	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139292	0.56936	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.20881	2.04	4.94	1.44	0.22558	.	.	.	.	.	T	0.15132	0.0365	L	0.32530	0.975	0.20638	N	0.999878	B	0.27997	0.197	B	0.28638	0.092	T	0.25572	-1.0128	9	0.72032	D	0.01	.	5.9195	0.19073	0.1859:0.1583:0.6558:0.0	.	984	Q9H2D6	TARA_HUMAN	S	984	ENSP00000384312:G984S	ENSP00000384312:G984S	G	+	1	0	TRIOBP	36451459	0.424000	0.25490	0.207000	0.23584	0.806000	0.45545	0.969000	0.29370	0.610000	0.30035	0.558000	0.71614	GGC	0	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	protein_coding	OTTHUMT00000319439.2	23	186	0	0.00	0	0	G		0	0		38121513	1	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	14	131	39.13	16.98	9	27	SNP	0.161	A
ENTHD1	150350	genome.wustl.edu	37	22	40257914	40257914	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:40257914G>A	ENST00000325157.6	-	3	698	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	150										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGGGAGGTACGCTGTCTAGTC	0.443																																							0											0													81.0	74.0	77.0					22																	40257914		2203	4300	6503	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.448C>T	22.37:g.40257914G>A	ENSP00000317431:p.Arg150Cys		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.R150C	ENST00000325157.6	37	c.448	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577433	0.45902	.	.	ENSG00000176177	ENST00000325157	T	0.57273	0.41	6.17	5.16	0.70880	ENTH/VHS (1);	0.000000	0.64402	D	0.000004	T	0.68851	0.3046	M	0.66939	2.045	0.50313	D	0.999866	D	0.89917	1.0	D	0.91635	0.999	T	0.72070	-0.4401	10	0.87932	D	0	-14.2028	11.2724	0.49147	0.0827:0.0:0.9173:0.0	.	150	Q8IYW4	ENTD1_HUMAN	C	150	ENSP00000317431:R150C	ENSP00000317431:R150C	R	-	1	0	ENTHD1	38587860	0.953000	0.32496	0.826000	0.32828	0.152000	0.21847	3.476000	0.53143	1.620000	0.50308	0.655000	0.94253	CGT	0	NULL		0.443	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	protein_coding	OTTHUMT00000321302.1	89	208	0	0.00	0	0	G	NM_152512	0	0		40257914	-1	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	70	187	23.91	29.32	22	78	SNP	0.759	A
SLC25A17	10478	genome.wustl.edu	37	22	41188562	41188562	+	Missense_Mutation	SNP	T	T	C	rs113893475		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:41188562T>C	ENST00000435456.2	-	4	434	c.301A>G	c.(301-303)Act>Gct	p.T101A	SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Missense_Mutation_p.T64A	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	101	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						tcttttccagtggtagaatgt	0.383																																							0											0													63.0	62.0	63.0					22																	41188562		2203	4300	6503	SO:0001583	missense	0			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.301A>G	22.37:g.41188562T>C	ENSP00000390722:p.Thr101Ala		A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.T101A	ENST00000435456.2	37	c.301	CCDS14005.1	22	.	.	.	.	.	.	.	.	.	.	T	6.457	0.452530	0.12283	.	.	ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000434185	T;T;T	0.78246	-1.16;-1.16;0.7	1.83	1.83	0.25207	Mitochondrial carrier domain (2);	0.112351	0.64402	D	0.000010	T	0.47581	0.1453	N	0.04260	-0.245	0.45025	D	0.998048	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.006	T	0.32640	-0.9899	10	0.07482	T	0.82	-24.6184	5.7627	0.18209	0.0:0.0:0.0:1.0	.	64;101	B4DU97;O43808	.;PM34_HUMAN	A	101;64;84	ENSP00000390722:T101A;ENSP00000438355:T64A;ENSP00000404200:T84A	ENSP00000394539:T101A	T	-	1	0	SLC25A17	39518508	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.976000	0.40579	1.108000	0.41662	0.327000	0.21459	ACT	0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.383	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A17	protein_coding	OTTHUMT00000321487.1	120	296	0	0.00	0	0	T	NM_006358	rs113893475	T->C		41188562	-1	no_errors	ENST00000435456	ensembl	human	known	74_37	missense	55	235	28.57	32.76	22	115	SNP	1	C
EP300	2033	genome.wustl.edu	37	22	41564729	41564729	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:41564729G>A	ENST00000263253.7	+	25	5249	c.4030G>A	c.(4030-4032)Gtg>Atg	p.V1344M	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1344	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GTATAGGTTTGTGGACAGTGG	0.443			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																														0		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													153.0	137.0	142.0					22																	41564729		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4030G>A	22.37:g.41564729G>A	ENSP00000263253:p.Val1344Met		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V1344M	ENST00000263253.7	37	c.4030	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459432	0.84317	.	.	ENSG00000100393	ENST00000263253	D	0.93488	-3.23	5.95	5.95	0.96441	.	0.000000	0.43579	D	0.000545	D	0.97331	0.9127	M	0.87900	2.915	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97268	0.9909	10	0.72032	D	0.01	-8.4632	20.3747	0.98911	0.0:0.0:1.0:0.0	.	1344	Q09472	EP300_HUMAN	M	1344	ENSP00000263253:V1344M	ENSP00000263253:V1344M	V	+	1	0	EP300	39894675	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GTG	0	pfam_Histone_H3-K56_AcTrfase_RTT109		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	protein_coding	OTTHUMT00000320600.1	92	289	0	0.68	0	2	G	NM_001429	0	0		41564729	1	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	46	213	24.19	28.67	15	86	SNP	1	A
SEPT3	55964	genome.wustl.edu	37	22	42383764	42383764	+	Splice_Site	SNP	G	G	A	rs574717482		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:42383764G>A	ENST00000396426.3	+	5	806		c.e5+1		SEPT3_ENST00000396425.3_Splice_Site|SEPT3_ENST00000406029.1_Splice_Site|SEPT3_ENST00000328414.8_Splice_Site|SEPT3_ENST00000291236.11_Splice_Site	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3						cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CAGGACACTCGTATGTACCAA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		22814	0.0		0.0	False		,,,				2504	0.001						0.9998,0.0001997											0													159.0	109.0	126.0					22																	42383764		2203	4300	6503	SO:0001630	splice_region_variant	0			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.551+1G>A	22.37:g.42383764G>A			B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Splice_Site	SNP	0	e5+1	ENST00000396426.3	37	c.551+1	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658490	0.88154	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7047	0.91633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT3	40713710	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.787000	0.99055	2.504000	0.84457	0.563000	0.77884	.	0	0		0.522	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	protein_coding	OTTHUMT00000322051.1	44	202	0	0.00	0	0	G	NM_145734	rs574717482	G->A	Intron	42383764	1	no_errors	ENST00000396426	ensembl	human	known	74_37	splice_site	37	182	13.95	30.57	6	81	SNP	1	A
PARVB	29780	genome.wustl.edu	37	22	44532343	44532343	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:44532343C>T	ENST00000338758.7	+	7	700	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PARVB_ENST00000406477.3_Missense_Mutation_p.R246W|PARVB_ENST00000404989.1_Missense_Mutation_p.R176W	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	213					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TTTTCAGAAACGGGAAGGCCT	0.552																																							0											0													89.0	75.0	79.0					22																	44532343		2203	4300	6503	SO:0001583	missense	0			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.637C>T	22.37:g.44532343C>T	ENSP00000342492:p.Arg213Trp		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R246W	ENST00000338758.7	37	c.736	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339592	0.81911	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.33438	1.41;1.44;1.45	4.63	4.63	0.57726	Calponin homology domain (1);	0.133715	0.50627	D	0.000110	T	0.56187	0.1968	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.75484	0.947;0.959;0.945;0.986	T	0.62623	-0.6815	10	0.87932	D	0	-4.1617	16.0834	0.81020	0.0:1.0:0.0:0.0	.	213;176;213;246	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	W	246;213;176	ENSP00000384515:R246W;ENSP00000342492:R213W;ENSP00000384353:R176W	ENSP00000342492:R213W	R	+	1	2	PARVB	42863676	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.363000	0.34159	2.137000	0.66172	0.655000	0.94253	CGG	0	superfamily_CH-domain		0.552	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000319518.2	40	155	0	0.00	0	0	C	NM_001003828	0	0		44532343	1	no_errors	ENST00000406477	ensembl	human	known	74_37	missense	16	135	15.79	29.69	3	57	SNP	1	T
CELSR1	9620	genome.wustl.edu	37	22	46835085	46835085	+	Splice_Site	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:46835085C>T	ENST00000262738.3	-	3	4406		c.e3+1			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGCACACTCACGTGAGGGAGA	0.632																																							0											0													84.0	71.0	75.0					22																	46835085		2203	4300	6503	SO:0001630	splice_region_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4406+1G>A	22.37:g.46835085C>T			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Splice_Site	SNP	0	e3+1	ENST00000262738.3	37	c.4406+1	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758959	0.49468	.	.	ENSG00000075275	ENST00000262738	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1211	0.89572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR1	45213749	1.000000	0.71417	0.790000	0.31976	0.135000	0.20990	7.484000	0.81180	2.387000	0.81309	0.561000	0.74099	.	0	0		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	73	87	0	0.00	0	0	C	NM_014246	0	0	Intron	46835085	-1	no_errors	ENST00000262738	ensembl	human	known	74_37	splice_site	39	68	36.07	28.42	22	27	SNP	1	T
BRD1	23774	genome.wustl.edu	37	22	50191729	50191729	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:50191729C>A	ENST00000216267.8	-	5	2308	c.1822G>T	c.(1822-1824)Gac>Tac	p.D608Y	BRD1_ENST00000457780.2_Missense_Mutation_p.D608Y|BRD1_ENST00000404034.1_Missense_Mutation_p.D608Y|BRD1_ENST00000342989.5_Missense_Mutation_p.D203Y|BRD1_ENST00000404760.1_Missense_Mutation_p.D608Y|BRD1_ENST00000542442.1_Missense_Mutation_p.D296Y	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	608	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCAAAGTCCATGGGATGT	0.343																																							0											0													104.0	104.0	104.0					22																	50191729		2203	4300	6503	SO:0001583	missense	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1822G>T	22.37:g.50191729C>A	ENSP00000216267:p.Asp608Tyr		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.D608Y	ENST00000216267.8	37	c.1822	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889083	0.72524	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.7	5.7	0.88788	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	H	0.98786	4.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85194	0.1011	10	0.72032	D	0.01	.	19.8327	0.96642	0.0:1.0:0.0:0.0	.	608;203;608;608	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	Y	608;608;608;608;296;203;68	ENSP00000216267:D608Y;ENSP00000384076:D608Y;ENSP00000385858:D608Y;ENSP00000410042:D608Y;ENSP00000437514:D296Y;ENSP00000345886:D203Y	ENSP00000216267:D608Y	D	-	1	0	BRD1	48577733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.549000	0.82163	2.695000	0.91970	0.655000	0.94253	GAC	0	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain		0.343	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	protein_coding	OTTHUMT00000317402.1	104	313	0	0.00	0	0	C	NM_014577	0	0		50191729	-1	no_errors	ENST00000216267	ensembl	human	known	74_37	missense	32	272	27.27	22.95	12	81	SNP	1	A
SHANK3	85358	genome.wustl.edu	37	22	51159900	51159900	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr22:51159900C>T	ENST00000414786.2	+	21	3824	c.3597C>T	c.(3595-3597)caC>caT	p.H1199H	SHANK3_ENST00000262795.3_Silent_p.H1229H|SHANK3_ENST00000445220.2_Silent_p.H1215H			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1213					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCGTTGTGCACGCCACCAGCA	0.701																																							0											0													18.0	22.0	20.0					22																	51159900		2032	4052	6084	SO:0001819	synonymous_variant	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3597C>T	22.37:g.51159900C>T			D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.H1229	ENST00000414786.2	37	c.3687		22																																																																																			0	NULL		0.701	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	protein_coding	OTTHUMT00000316674.2	35	23	0	0.00	0	0	C	NM_001080420	0	0		51159900	1	no_errors	ENST00000262795	ensembl	human	known	74_37	silent	17	26	19.05	25.71	4	9	SNP	0.977	T
ARSH	347527	genome.wustl.edu	37	X	2936599	2936600	+	Frame_Shift_Ins	INS	-	-	T	rs368634386		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:2936599_2936600insT	ENST00000381130.2	+	5	789_790	c.789_790insT	c.(790-792)tttfs	p.F264fs		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	264					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTTTCTCCTCTTTTTTTCCTT	0.391																																							0											0																																										SO:0001589	frameshift_variant	0			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.796dupT	X.37:g.2936606_2936606dupT	ENSP00000370522:p.Phe264fs			Frame_Shift_Ins	INS	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S265fs	ENST00000381130.2	37	c.789_790	CCDS35198.1	X																																																																																			0	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.391	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSH	protein_coding	OTTHUMT00000356489.1	155	266	0	0.00	0	0	0	NM_001011719	rs368634386	C->CT		2936600	1	no_errors	ENST00000381130	ensembl	human	known	74_37	frame_shift_ins	61	255	26.51	27.35	22	96	INS	0.125:0.107	T
OFD1	8481	genome.wustl.edu	37	X	13780494	13780494	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:13780494delA	ENST00000340096.6	+	18	2746	c.2419delA	c.(2419-2421)aaafs	p.K807fs	OFD1_ENST00000380567.1_Frame_Shift_Del_p.K667fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.K767fs|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	807	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACTTCAAGACAAAAGTGAATT	0.313																																							0											0													81.0	75.0	77.0					X																	13780494		2203	4300	6503	SO:0001589	frameshift_variant	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2419delA	X.37:g.13780494delA	ENSP00000344314:p.Lys807fs		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.S808fs	ENST00000340096.6	37	c.2419	CCDS14157.1	X																																																																																			0	NULL		0.313	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	protein_coding	OTTHUMT00000055808.1	260	269	0	0.00	0	0	A	NM_003611	0	0		13780494	1	no_errors	ENST00000340096	ensembl	human	known	74_37	frame_shift_del	135	163	28.19	32.08	53	77	DEL	0.001	0
SAT1	6303	genome.wustl.edu	37	X	23804224	23804225	+	3'UTR	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:23804224_23804225insA	ENST00000379270.4	+	0	946_947				SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_3'UTR	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						TAATATATTTGAAAAAAACTTC	0.317																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.*252->A	X.37:g.23804231_23804231dupA			A8K9N2|Q7Z5R3|Q96BK0	RNA	INS	0	NULL	ENST00000379270.4	37	NULL	CCDS14207.1	X																																																																																			0	0		0.317	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAT1	protein_coding	OTTHUMT00000056056.1	103	289	0	0.00	0	0	0	NM_002970	0	0		23804225	1	no_errors	ENST00000462639	ensembl	human	known	74_37	rna	72	261	20	25.85	18	91	INS	0.043:0.385	A
ATRX	546	genome.wustl.edu	37	X	76763771	76763772	+	3'UTR	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:76763771_76763772insA	ENST00000373344.5	-	0	7750_7751				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_3'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CATTGATTCCTAAAAAAATAAA	0.302			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																0		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*58->T	X.37:g.76763778_76763778dupA			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	INS	0	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			0	0		0.302	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	83	285	0	0.00	0	0	0	NM_000489	0	0		76763772	-1	no_errors	ENST00000480283	ensembl	human	known	74_37	rna	31	227	35.42	29.06	17	93	INS	1.000:1.000	A
PGK1	5230	genome.wustl.edu	37	X	77381539	77381539	+	3'UTR	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:77381539delT	ENST00000373316.4	+	0	1633				PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000537456.1_3'UTR|PGK1_ENST00000442431.1_3'UTR	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CCCATTTGAATTTTTTAGTGA	0.378																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.*212T>-	X.37:g.77381539delT			A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	RNA	DEL	0	NULL	ENST00000373316.4	37	NULL	CCDS14438.1	X																																																																																			0	0		0.378	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	protein_coding	OTTHUMT00000057310.1	37	90	0	0.00	0	0	T		0	0		77381539	1	no_errors	ENST00000476531	ensembl	human	known	74_37	rna	25	63	24.24	31.52	8	29	DEL	0.997	0
ZNF711	7552	genome.wustl.edu	37	X	84526621	84526621	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:84526621delA	ENST00000373165.3	+	9	2379	c.2073delA	c.(2071-2073)ctafs	p.L691fs	ZNF711_ENST00000276123.3_Frame_Shift_Del_p.L691fs|ZNF711_ENST00000542798.1_Frame_Shift_Del_p.L533fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.L699fs|ZNF711_ENST00000360700.4_Frame_Shift_Del_p.L737fs	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	691					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAAATGAGCTAAAAAAACATA	0.358																																							0											0													112.0	96.0	102.0					X																	84526621		2203	4300	6503	SO:0001589	frameshift_variant	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.2073delA	X.37:g.84526621delA	ENSP00000362260:p.Leu691fs		B4DSV4|Q6NX42|Q9Y4J6	Frame_Shift_Del	DEL	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K701fs	ENST00000373165.3	37	c.2097	CCDS35344.1	X																																																																																			0	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	protein_coding	OTTHUMT00000057388.2	94	220	0	0.00	0	0	A	NM_021998	0	0		84526621	1	no_errors	ENST00000395402	ensembl	human	known	74_37	frame_shift_del	45	161	34.78	32.07	24	76	DEL	0.506	0
HNRNPH2	3188	genome.wustl.edu	37	X	100668112	100668112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:100668112delT	ENST00000316594.5	+	2	1214	c.1136delT	c.(1135-1137)cttfs	p.L379fs		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	379	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TATGTAGAACTTTTTTTGAAT	0.453																																							0											0													158.0	150.0	153.0					X																	100668112		2203	4300	6503	SO:0001589	frameshift_variant	0			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1136delT	X.37:g.100668112delT	ENSP00000361927:p.Leu379fs		A1L400|Q9HHA7	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.L381fs	ENST00000316594.5	37	c.1136	CCDS14485.1	X																																																																																			0	NULL		0.453	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH2	protein_coding	OTTHUMT00000057556.1	30	139	0	0.00	0	0	T	NM_019597	0	0		100668112	1	no_errors	ENST00000316594	ensembl	human	known	74_37	frame_shift_del	19	111	29.63	31.90	8	52	DEL	1	0
FAM122B	159090	genome.wustl.edu	37	X	133905128	133905128	+	3'UTR	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:133905128delA	ENST00000370790.1	-	0	2713				FAM122B_ENST00000298090.6_3'UTR|FAM122B_ENST00000493333.1_5'Flank|FAM122B_ENST00000343004.5_3'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AAGGAATCGGAAAAAAAGCAG	0.383													AAAAAAA|AAAAAAA|AAAAAA|deletion	1	0.000264901	0.0	0.0	3775	,	,		16088	0.0		0.001	False		,,,				2504	0.0						0											0																																										SO:0001624	3_prime_UTR_variant	0			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.*1041T>-	X.37:g.133905128delA			A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	RNA	DEL	0	NULL	ENST00000370790.1	37	NULL	CCDS55497.1	X																																																																																			0	0		0.383	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	protein_coding	OTTHUMT00000058382.1	81	211	0	0.47	0	1	A	NM_145284	0	0		133905128	-1	no_errors	ENST00000478384	ensembl	human	known	74_37	rna	55	204	28.57	32.23	22	97	DEL	0.004	0
RBMX	27316	genome.wustl.edu	37	X	135961586	135961589	+	Start_Codon_Del	DEL	TGTT	TGTT	-	rs201673579|rs2011584		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TGTT	TGTT	TGTT	-	TGTT	TGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:135961586_135961589delTGTT	ENST00000320676.7	-	0	152_155				SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000562646.1_Start_Codon_Del|RBMX_ENST00000431446.3_Start_Codon_Del|RBMX_ENST00000565438.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GCTTCAACCATGTTTTTTTTTTTT	0.392																																							0											1	Unknown(1)	ovary(1)																																								SO:0001582	initiator_codon_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517		X.37:g.135961586_135961589delTGTT			B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.M1fs	ENST00000320676.7	37	c.1	CCDS14661.1	X																																																																																			0	NULL		0.392	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	protein_coding	OTTHUMT00000058507.1	30	95	0	1.04	0	1	TGTT	NM_002139	0	0		135961589	-1	no_errors	ENST00000320676	ensembl	human	known	74_37	frame_shift_del	17	89	19.05	30.47	4	39	DEL	1	0
FGF13	2258	genome.wustl.edu	37	X	137939823	137939823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:137939823delG	ENST00000370603.3	-	2	67	c.68delC	c.(67-69)cctfs	p.P23fs	FGF13_ENST00000441825.2_5'UTR|FGF13_ENST00000541469.1_Intron			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGTGTGCCAGGGGGGGCGTC	0.433																																							0											0													100.0	85.0	89.0					X																	137939823		1568	3582	5150	SO:0001589	frameshift_variant	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000370603.3:c.68delC	X.37:g.137939823delG	ENSP00000359635:p.Pro23fs		B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Frame_Shift_Del	DEL	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.P23fs	ENST00000370603.3	37	c.68	CCDS55513.1	X																																																																																			0	NULL		0.433	FGF13-201	KNOWN	basic|CCDS	protein_coding	FGF13	protein_coding		31	200	0	0.50	0	1	G	NM_004114	0	0		137939823	-1	no_errors	ENST00000370603	ensembl	human	known	74_37	frame_shift_del	22	161	29.03	33.20	9	80	DEL	1	0
PRRG3	79057	genome.wustl.edu	37	X	150869296	150869297	+	Frame_Shift_Ins	INS	-	-	G	rs139807152	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:150869296_150869297insG	ENST00000370353.3	+	4	877_878	c.487_488insG	c.(487-489)cggfs	p.R163fs	PRRG3_ENST00000538575.1_Frame_Shift_Ins_p.R163fs			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	163						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R163P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCAGTCGGGGGGGCAGG	0.673																																							0											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.494dupG	X.37:g.150869303_150869303dupG	ENSP00000359378:p.Arg163fs		A1A523|A1A575|Q8N2N6	Frame_Shift_Ins	INS	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.R166fs	ENST00000370353.3	37	c.487_488	CCDS14699.1	X																																																																																			0	NULL		0.673	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	protein_coding	OTTHUMT00000060880.1	21	53	0	0.00	0	0	0	NM_024082	0	0		150869297	1	no_errors	ENST00000370353	ensembl	human	known	74_37	frame_shift_ins	18	35	18.18	33.96	4	18	INS	0.000:0.000	G
ZNF185	7739	genome.wustl.edu	37	X	152087569	152087570	+	In_Frame_Ins	INS	-	-	GAG			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	GAG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:152087569_152087570insGAG	ENST00000370268.4	+	7	511_512	c.474_475insGAG	c.(475-477)gag>GAGgag	p.159_159E>EE	ZNF185_ENST00000535861.1_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000324823.6_In_Frame_Ins_p.24_24E>EE|ZNF185_ENST00000539731.1_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000318504.7_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000318529.8_In_Frame_Ins_p.24_24E>EE|ZNF185_ENST00000449285.2_In_Frame_Ins_p.159_159E>EE|ZNF185_ENST00000370270.2_In_Frame_Ins_p.159_159E>EE			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	159	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGGACACCgaggaggagga	0.589																																							0											0																																										SO:0001652	inframe_insertion	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.493_495dupGAG	X.37:g.152087576_152087578dupGAG	ENSP00000359291:p.Glu165dup		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Ins	INS	smart_Znf_LIM,pfscan_Znf_LIM	p.162in_frame_insE	ENST00000370268.4	37	c.474_475	CCDS48184.1	X																																																																																			0	NULL		0.589	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	protein_coding	OTTHUMT00000377480.1	50	76	0	0.00	0	0	0	NM_007150	0	0		152087570	1	no_errors	ENST00000370270	ensembl	human	known	74_37	in_frame_ins	23	105	42.5	16.67	17	21	INS	0.000:0.026	GAG
MEGF6	1953	genome.wustl.edu	37	1	3410403	3410404	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:3410403_3410404insC	ENST00000356575.4	-	34	4544_4545	c.4318_4319insG	c.(4318-4320)gcafs	p.A1440fs	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1440						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A1440P(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTCACAGGGTGCCCCCCCGTCA	0.668																																					Ovarian(73;978 3658)		0											1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4319dupG	1.37:g.3410410_3410410dupC	ENSP00000348982:p.Ala1440fs		Q4AC86|Q5VV39	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.A1440fs	ENST00000356575.4	37	c.4319_4318	CCDS41237.1	1																																																																																			0	smart_EG-like_dom,smart_EGF_laminin		0.668	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	protein_coding	OTTHUMT00000354866.1	54	95	0	0.00	0	0	0	NM_001409	0	0		3410404	-1	no_errors	ENST00000356575	ensembl	human	known	74_37	frame_shift_ins	36	73	21.74	29.13	10	30	INS	0.000:0.000	C
CCDC27	148870	genome.wustl.edu	37	1	3672108	3672108	+	Frame_Shift_Del	DEL	G	G	-	rs201434850	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:3672108delG	ENST00000294600.2	+	3	614	c.530delG	c.(529-531)cggfs	p.R177fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	177										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTGGCCAGGCGGGGCTCAGAC	0.632																																							0											0													133.0	143.0	140.0					1																	3672108		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.530delG	1.37:g.3672108delG	ENSP00000294600:p.Arg177fs		Q5TBV3|Q96M50	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.G178fs	ENST00000294600.2	37	c.530	CCDS50.1	1																																																																																			0	NULL		0.632	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	protein_coding	OTTHUMT00000009740.1	23	109	0	0.00	0	0	G	NM_152492	0	0		3672108	1	no_errors	ENST00000294600	ensembl	human	known	74_37	frame_shift_del	14	70	26.32	30.69	5	31	DEL	0	0
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000497965.1_5'UTR|RPL22_ENST00000484532.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																		0		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs		B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			0	pfam_Ribosomal_L22e		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	protein_coding	OTTHUMT00000002830.1	54	92	1.82	1.08	1	1	T	NM_000983	0	0		6257785	-1	no_errors	ENST00000234875	ensembl	human	known	74_37	frame_shift_del	17	37	55.26	55.95	21	47	DEL	1	0
PLEKHG5	57449	genome.wustl.edu	37	1	6536002	6536003	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:6536002_6536003delCA	ENST00000400915.3	-	4	371_372	c.305_306delTG	c.(304-306)gtgfs	p.V102fs	PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.V115fs|PLEKHG5_ENST00000377748.1_Frame_Shift_Del_p.V123fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.V83fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.V46fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.V123fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.V125fs	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	102					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTGCCATCCACAGAGCTCTC	0.644											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0																																										SO:0001589	frameshift_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.305_306delTG	1.37:g.6536004_6536005delCA	ENSP00000383706:p.Val102fs	634	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V125fs	ENST00000400915.3	37	c.375_374	CCDS41241.1	1																																																																																			0	NULL		0.644	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	49	93	0	0.00	0	0	CA	NM_020631	0	0		6536003	-1	no_errors	ENST00000537245	ensembl	human	known	74_37	frame_shift_del	33	75	17.5	23.47	7	23	DEL	0.069:0.003	0
C1orf127	148345	genome.wustl.edu	37	1	11007833	11007833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:11007833delC	ENST00000377008.4	-	11	2304	c.1858delG	c.(1858-1860)gccfs	p.A620fs	C1orf127_ENST00000377004.4_Frame_Shift_Del_p.A787fs			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	620										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGAGTGAGGCCCCCCGGCCA	0.627																																							0											0													24.0	24.0	24.0					1																	11007833		2203	4300	6503	SO:0001589	frameshift_variant	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1858delG	1.37:g.11007833delC	ENSP00000366207:p.Ala620fs		A0AVG8|A6NKM7|Q5VXJ2	Frame_Shift_Del	DEL	superfamily_DNA-bd_dom_put	p.A787fs	ENST00000377008.4	37	c.2359		1																																																																																			0	superfamily_DNA-bd_dom_put		0.627	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	protein_coding		20	70	0	0.00	0	0	C	NM_173507	0	0		11007833	-1	no_errors	ENST00000377004	ensembl	human	known	74_37	frame_shift_del	6	37	53.85	32.73	7	18	DEL	0	0
SPEN	23013	genome.wustl.edu	37	1	16256949	16256950	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:16256949_16256950insT	ENST00000375759.3	+	11	4418_4419	c.4214_4215insT	c.(4213-4218)tcttttfs	p.SF1405fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1405					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCGATTGTCTTTTTTATTGA	0.416																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4220dupT	1.37:g.16256955_16256955dupT	ENSP00000364912:p.Ser1405fs		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.L1407fs	ENST00000375759.3	37	c.4214_4215	CCDS164.1	1																																																																																			0	NULL		0.416	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	31	210	0	0.00	0	0	0	NM_015001	0	0		16256950	1	no_errors	ENST00000375759	ensembl	human	known	74_37	frame_shift_ins	20	178	23.08	25.21	6	60	INS	1.000:1.000	T
MUL1	79594	genome.wustl.edu	37	1	20827665	20827665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:20827665delC	ENST00000264198.3	-	4	713	c.577delG	c.(577-579)gccfs	p.A193fs		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	193					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GTGAGGGTGGCCCCCACCTTC	0.592																																							0											0													91.0	90.0	90.0					1																	20827665		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.577delG	1.37:g.20827665delC	ENSP00000264198:p.Ala193fs		B5M497|Q7Z431|Q9H9B5	Frame_Shift_Del	DEL	pfam_MULAN,pfscan_Znf_RING	p.A193fs	ENST00000264198.3	37	c.577	CCDS208.1	1																																																																																			0	pfam_MULAN		0.592	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	protein_coding	OTTHUMT00000007951.1	32	215	0	0.00	0	0	C	NM_024544	0	0		20827665	-1	no_errors	ENST00000264198	ensembl	human	known	74_37	frame_shift_del	18	162	33.33	22.49	9	47	DEL	1	0
HP1BP3	50809	genome.wustl.edu	37	1	21106338	21106338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:21106338delT	ENST00000312239.5	-	3	302	c.163delA	c.(163-165)agcfs	p.S55fs	HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375000.1_Frame_Shift_Del_p.S55fs	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	55					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GCAAGCTTGCTTTTGGGAGGA	0.418																																							0											0													81.0	78.0	79.0					1																	21106338		2203	4300	6503	SO:0001589	frameshift_variant	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.163delA	1.37:g.21106338delT	ENSP00000312625:p.Ser55fs		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Frame_Shift_Del	DEL	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.S55fs	ENST00000312239.5	37	c.163	CCDS30621.1	1																																																																																			0	NULL		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	protein_coding	OTTHUMT00000007457.2	117	286	0	0.00	0	0	T	NM_016287	0	0		21106338	-1	no_errors	ENST00000312239	ensembl	human	known	74_37	frame_shift_del	96	285	27.27	29.28	36	118	DEL	1	0
EIF4G3	8672	genome.wustl.edu	37	1	21306905	21306905	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:21306905delG	ENST00000264211.8	-	4	441	c.247delC	c.(247-249)caafs	p.Q84fs	EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.Q84fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.Q91fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.Q84fs|EIF4G3_ENST00000356916.3_Frame_Shift_Del_p.Q95fs|EIF4G3_ENST00000602326.1_Frame_Shift_Del_p.Q91fs|EIF4G3_ENST00000374927.4_Frame_Shift_Del_p.Q84fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	84					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGATATTGTTGGGGGGGCCCA	0.443																																							0											0													23.0	27.0	26.0					1																	21306905		2203	4300	6503	SO:0001589	frameshift_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.247delC	1.37:g.21306905delG	ENSP00000264211:p.Gln84fs		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Del	DEL	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.Q90fs	ENST00000264211.8	37	c.268	CCDS214.1	1																																																																																			0	NULL		0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	160	201	0	0.00	0	0	G	NM_003760	0	0		21306905	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	frame_shift_del	99	164	23.26	22.27	30	47	DEL	1	0
ALPL	249	genome.wustl.edu	37	1	21904120	21904120	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:21904120delC	ENST00000374840.3	+	12	1804	c.1554delC	c.(1552-1554)tacfs	p.Y518fs	ALPL_ENST00000540617.1_Frame_Shift_Del_p.Y463fs|ALPL_ENST00000374829.1_Frame_Shift_Del_p.Y164fs|ALPL_ENST00000425315.2_Frame_Shift_Del_p.Y518fs|ALPL_ENST00000374830.1_Frame_Shift_Del_p.Y164fs|ALPL_ENST00000374832.1_Frame_Shift_Del_p.Y518fs|ALPL_ENST00000539907.1_Frame_Shift_Del_p.Y441fs	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	518					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	TGGCCCTCTACCCCCTGAGCG	0.706																																							0											0													15.0	14.0	14.0					1																	21904120		2194	4275	6469	SO:0001589	frameshift_variant	0			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1554delC	1.37:g.21904120delC	ENSP00000363973:p.Tyr518fs		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Frame_Shift_Del	DEL	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.L520fs	ENST00000374840.3	37	c.1554	CCDS217.1	1																																																																																			0	NULL		0.706	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	protein_coding	OTTHUMT00000008202.1	38	36	0	0.00	0	0	C	NM_000478	0	0		21904120	1	no_errors	ENST00000374832	ensembl	human	known	74_37	frame_shift_del	18	28	30.77	26.32	8	10	DEL	0	0
MAP7D1	55700	genome.wustl.edu	37	1	36642311	36642313	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:36642311_36642313delAGA	ENST00000373151.2	+	8	1463_1465	c.1247_1249delAGA	c.(1246-1251)gagaag>gag	p.K418del	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_In_Frame_Del_p.K386del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.K381del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	418					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				Cagaaaaaggagaagaaggacaa	0.645																																							0											0																																										SO:0001651	inframe_deletion	0			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1247_1249delAGA	1.37:g.36642314_36642316delAGA	ENSP00000362244:p.Lys418del		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	pfam_MAP7	p.K418in_frame_del	ENST00000373151.2	37	c.1247_1249	CCDS30673.1	1																																																																																			0	NULL		0.645	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	protein_coding	OTTHUMT00000382095.1	52	123	0	0.00	0	0	AGA	NM_018067	0	0		36642313	1	no_errors	ENST00000373151	ensembl	human	known	74_37	in_frame_del	37	84	15.91	21.50	7	23	DEL	1.000:0.996:1.000	0
PPAP2B	8613	genome.wustl.edu	37	1	56962089	56962089	+	3'UTR	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:56962089delT	ENST00000371250.3	-	0	1621				PPAP2B_ENST00000459962.1_5'Flank	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B						Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TAGTAAAACATTTTTTTTTTC	0.398																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.*134A>-	1.37:g.56962089delT			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	RNA	DEL	0	NULL	ENST00000371250.3	37	NULL	CCDS604.1	1																																																																																			0	0		0.398	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	protein_coding	OTTHUMT00000022334.2	23	108	4.17	1.82	1	2	T	NM_003713	0	0		56962089	-1	no_errors	ENST00000472957	ensembl	human	known	74_37	rna	11	118	26.67	14.49	4	20	DEL	0.869	0
FUBP1	8880	genome.wustl.edu	37	1	78413956	78413956	+	IGR	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:78413956delA	ENST00000370768.2	-	0	2378				FUBP1_ENST00000489495.1_5'UTR	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCAAGGGGGGAAAAACATGCC	0.318			"""F, N"""		oligodendroglioma																																		0		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0																																										SO:0001628	intergenic_variant	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799		1.37:g.78413956delA			Q12828	RNA	DEL	0	NULL	ENST00000370768.2	37	NULL	CCDS683.1	1																																																																																			0	0		0.318	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	protein_coding	OTTHUMT00000098030.3	48	255	0	0.00	0	0	A	NM_003902	0	0		78413956	-1	no_errors	ENST00000489495	ensembl	human	known	74_37	rna	32	247	20	29.23	8	102	DEL	1	0
PRKACB	5567	genome.wustl.edu	37	1	84644763	84644763	+	Intron	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:84644763delT	ENST00000370689.2	+	2	310				PRKACB_ENST00000394839.2_Intron|PRKACB_ENST00000370680.1_Intron|PRKACB_ENST00000370688.3_Intron|PRKACB_ENST00000370682.3_Intron|PRKACB_ENST00000370685.3_Intron|PRKACB_ENST00000394838.2_Intron|PRKACB_ENST00000470673.1_Intron	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ATGACATGTCTTTTTTTAAGT	0.234																																							0											0													2.0	2.0	2.0					1																	84644763		631	1466	2097	SO:0001627	intron_variant	0			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.47-97T>-	1.37:g.84644763delT			B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	RNA	DEL	0	NULL	ENST00000370689.2	37	NULL	CCDS691.1	1																																																																																			0	0		0.234	PRKACB-001	KNOWN	basic|CCDS	protein_coding	PRKACB	protein_coding	OTTHUMT00000027641.1	254	166	0	0.00	0	0	T	NM_182948	0	0		84644763	1	no_errors	ENST00000467507	ensembl	human	known	74_37	rna	124	97	30.73	33.56	55	49	DEL	0.001	0
CDC14A	8556	genome.wustl.edu	37	1	100908567	100908567	+	Intron	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:100908567delT	ENST00000336454.3	+	7	874				CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000370125.2_Intron|CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370124.3_Intron|CDC14A_ENST00000361544.6_Intron|CDC14A_ENST00000544534.1_Intron	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A						cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GTACATTTAATTTTTTTTACA	0.303																																							0											0													73.0	76.0	75.0					1																	100908567		2200	4294	6494	SO:0001627	intron_variant	0			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.519+15T>-	1.37:g.100908567delT			A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	RNA	DEL	0	NULL	ENST00000336454.3	37	NULL	CCDS769.1	1																																																																																			0	0		0.303	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	protein_coding	OTTHUMT00000030220.1	89	243	0	0.41	0	1	T	NM_033312	0	0		100908567	1	no_errors	ENST00000469387	ensembl	human	known	74_37	rna	54	235	28	25.16	21	79	DEL	0	0
CEPT1	10390	genome.wustl.edu	37	1	111703836	111703836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:111703836delT	ENST00000545121.1	+	4	755	c.547delT	c.(547-549)tttfs	p.F184fs	CEPT1_ENST00000357172.4_Frame_Shift_Del_p.F184fs	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	184					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.C185fs*26(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGATTGGATGTTTTTTTGTTG	0.383																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											234.0	234.0	234.0					1																	111703836		2203	4300	6503	SO:0001589	frameshift_variant	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.547delT	1.37:g.111703836delT	ENSP00000441980:p.Phe184fs		Q69YJ9|Q9P0Y8	Frame_Shift_Del	DEL	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.C185fs	ENST00000545121.1	37	c.547	CCDS830.1	1																																																																																			0	pfam_CDP-OH_P_trans,pirsf_CHOPT		0.383	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	protein_coding	OTTHUMT00000034462.2	88	191	0	0.00	0	0	T	NM_006090	0	0		111703836	1	no_errors	ENST00000357172	ensembl	human	known	74_37	frame_shift_del	48	172	30.43	27.12	21	64	DEL	1	0
ZNF687	57592	genome.wustl.edu	37	1	151261161	151261162	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:151261161_151261162delTC	ENST00000368879.2	+	3	2371_2372	c.2273_2274delTC	c.(2272-2274)gtcfs	p.V758fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTCTGCACGTCTCTCGCCGTG	0.569																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2273_2274delTC	1.37:g.151261165_151261166delTC	ENSP00000357874:p.Val758fs		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R760fs	ENST00000368879.2	37	c.2273_2274		1																																																																																			0	NULL		0.569	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	protein_coding		62	139	0	0.00	0	0	TC	NM_020832	0	0		151261162	1	no_errors	ENST00000324048	ensembl	human	known	74_37	frame_shift_del	47	189	26.56	13.70	17	30	DEL	1.000:1.000	0
KPRP	448834	genome.wustl.edu	37	1	152732859	152732859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:152732859delC	ENST00000606109.1	+	1	823	c.795delC	c.(793-795)ttcfs	p.F265fs	KPRP_ENST00000368773.1_Frame_Shift_Del_p.F265fs			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	265	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGCTTTTCCCCCGCAGCT	0.617																																							0											0													35.0	42.0	39.0					1																	152732859		2203	4300	6503	SO:0001589	frameshift_variant	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.795delC	1.37:g.152732859delC	ENSP00000475216:p.Phe265fs			Frame_Shift_Del	DEL	NULL	p.R267fs	ENST00000606109.1	37	c.795	CCDS30862.1	1																																																																																			0	NULL		0.617	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	49	106	0	0.00	0	0	C	NM_001025231	0	0		152732859	1	no_errors	ENST00000368773	ensembl	human	known	74_37	frame_shift_del	64	137	23.81	12.18	20	19	DEL	0	0
TPM3	7170	genome.wustl.edu	37	1	154144891	154144892	+	Intron	INS	-	-	T	rs200258420		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:154144891_154144892insT	ENST00000368530.2	-	5	759				TPM3_ENST00000323144.7_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000368533.3_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000328159.4_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000368531.2_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CAGACACCAGATTTTTTTTTTA	0.48			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																		0		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0																																										SO:0001627	intron_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.566+491->A	1.37:g.154144901_154144901dupT			D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	RNA	INS	0	NULL	ENST00000368530.2	37	NULL	CCDS41403.1	1																																																																																			0	0		0.480	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	protein_coding	OTTHUMT00000087271.2	31	70	0	1.41	0	1	0	NM_152263	rs200258420	A->AT		154144892	-1	no_errors	ENST00000469717	ensembl	human	known	74_37	rna	18	112	25	15.79	6	21	INS	0.013:0.015	T
UBAP2L	9898	genome.wustl.edu	37	1	154227293	154227294	+	Intron	DEL	TT	TT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:154227293_154227294delTT	ENST00000361546.2	+	15	1896				AL590431.1_ENST00000517008.1_RNA|UBAP2L_ENST00000271877.7_Intron|UBAP2L_ENST00000343815.6_Intron|UBAP2L_ENST00000428931.1_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCTCTTCTGTTTTTTTTTTTT	0.401																																							0											0																																										SO:0001627	intron_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1855-18TT>-	1.37:g.154227303_154227304delTT			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	DEL	0	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			0	0		0.401	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	protein_coding	OTTHUMT00000087673.1	27	54	0	0.00	0	0	TT	NM_014847	0	0		154227294	1	no_errors	ENST00000495676	ensembl	human	known	74_37	rna	31	71	26.19	42.74	11	53	DEL	0.026:0.101	0
SHC1	6464	genome.wustl.edu	37	1	154938890	154938890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:154938890delC	ENST00000368445.5	-	8	1301	c.1087delG	c.(1087-1089)gtgfs	p.V364fs	SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368450.1_Frame_Shift_Del_p.V254fs|SHC1_ENST00000606391.1_Frame_Shift_Del_p.V165fs|SHC1_ENST00000448116.2_Frame_Shift_Del_p.V364fs|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000368453.4_Frame_Shift_Del_p.V254fs|SHC1_ENST00000368449.4_Frame_Shift_Del_p.V135fs	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	364	CH1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATGTCTACCACCCCCCCCAAG	0.607																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)		0											0													20.0	24.0	23.0					1																	154938890		2202	4300	6502	SO:0001589	frameshift_variant	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1087delG	1.37:g.154938890delC	ENSP00000357430:p.Val364fs		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Del	DEL	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.V363fs	ENST00000368445.5	37	c.1087	CCDS30881.1	1																																																																																			0	NULL		0.607	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	protein_coding	OTTHUMT00000090781.2	85	80	1.16	0.00	1	0	C	NM_183001	0	0		154938890	-1	no_errors	ENST00000368445	ensembl	human	known	74_37	frame_shift_del	63	115	22.22	24.34	18	37	DEL	0.93	0
THBS3	7059	genome.wustl.edu	37	1	155177643	155177643	+	Frame_Shift_Del	DEL	C	C	-	rs202082439		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:155177643delC	ENST00000368378.3	-	1	45	c.25delG	c.(25-27)gccfs	p.A9fs	THBS3_ENST00000486260.1_Intron|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|MTX1_ENST00000368376.3_5'Flank|THBS3_ENST00000457183.2_Frame_Shift_Del_p.A9fs|RP11-263K19.4_ENST00000422665.1_RNA|MTX1_ENST00000609421.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|MTX1_ENST00000316721.4_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	9					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAGCCAGGGCCCCCCGAAGT	0.607																																							0											0													85.0	84.0	84.0					1																	155177643		2203	4300	6503	SO:0001589	frameshift_variant	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.25delG	1.37:g.155177643delC	ENSP00000357362:p.Ala9fs		B1AVR8|B4DQ20|Q8WV34	Frame_Shift_Del	DEL	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A9fs	ENST00000368378.3	37	c.25	CCDS1099.1	1																																																																																			0	NULL		0.607	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	protein_coding	OTTHUMT00000086856.1	56	106	0	0.00	0	0	C	NM_007112	0	0		155177643	-1	no_errors	ENST00000368378	ensembl	human	known	74_37	frame_shift_del	30	107	14.29	19.55	5	26	DEL	1	0
CLK2	1196	genome.wustl.edu	37	1	155232988	155232988	+	3'UTR	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:155232988delG	ENST00000368361.4	-	0	1836				SCAMP3_ENST00000355379.3_5'Flank|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_3'UTR|CLK2_ENST00000355560.4_3'UTR|CLK2_ENST00000361168.5_3'UTR|SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAAAGATGCAGGGGGGCCCAG	0.547								Other conserved DNA damage response genes																															0											0													24.0	27.0	26.0					1																	155232988		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.*21C>-	1.37:g.155232988delG			B1AVS9|B5MBX6|Q96CQ0	RNA	DEL	0	NULL	ENST00000368361.4	37	NULL		1																																																																																			0	0		0.547	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	protein_coding	OTTHUMT00000087391.1	56	114	0	0.00	0	0	G	NM_003993	0	0		155232988	-1	no_errors	ENST00000476983	ensembl	human	known	74_37	rna	31	101	16.22	23.48	6	31	DEL	1	0
YY1AP1	55249	genome.wustl.edu	37	1	155658220	155658221	+	Intron	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:155658220_155658221insC	ENST00000295566.4	-	2	71				YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000438245.2_5'Flank|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000476093.1_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000405763.3_Frame_Shift_Ins_p.G12fs|DAP3_ENST00000465375.1_5'Flank|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_5'Flank|YY1AP1_ENST00000361831.5_Intron|YY1AP1_ENST00000311573.5_5'Flank|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000368340.5_Frame_Shift_Ins_p.G12fs|DAP3_ENST00000368336.5_5'Flank|YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000347088.5_Intron|DAP3_ENST00000421487.2_5'Flank|DAP3_ENST00000343043.3_5'Flank|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000368339.5_Frame_Shift_Ins_p.G12fs|DAP3_ENST00000471642.2_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1						regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTCGCGTTCTTCCCCACGGTCC	0.703																																							0											0																																										SO:0001627	intron_variant	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.48-228->G	1.37:g.155658224_155658224dupC			B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Frame_Shift_Ins	INS	NULL	p.R13fs	ENST00000295566.4	37	c.36_35	CCDS1115.1	1																																																																																			0	NULL		0.703	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	protein_coding	OTTHUMT00000086027.1	62	110	0	0.00	0	0	0	NM_139118	0	0		155658221	-1	no_errors	ENST00000368339	ensembl	human	known	74_37	frame_shift_ins	57	111	20.83	27.45	15	42	INS	0.990:0.989	C
ISG20L2	81875	genome.wustl.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557																																							0											0													82.0	86.0	85.0					1																	156694023		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.865delC	1.37:g.156694023delG	ENSP00000323424:p.Leu289fs		D3DVC6|Q64KA2	Frame_Shift_Del	DEL	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L289fs	ENST00000313146.6	37	c.865	CCDS1153.1	1																																																																																			0	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20L2	protein_coding	OTTHUMT00000098969.1	29	85	0	0.00	0	0	G	NM_030980	0	0		156694023	-1	no_errors	ENST00000313146	ensembl	human	known	74_37	frame_shift_del	27	100	18.18	24.24	6	32	DEL	0.997	0
ATP1A2	477	genome.wustl.edu	37	1	160093111	160093111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:160093111delG	ENST00000361216.3	+	4	375	c.286delG	c.(286-288)gggfs	p.G97fs	ATP1A2_ENST00000392233.3_Frame_Shift_Del_p.G97fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	97					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGCTTTTCGGGGGGTTCTC	0.602																																							0											0													197.0	201.0	199.0					1																	160093111		2203	4300	6503	SO:0001589	frameshift_variant	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.286delG	1.37:g.160093111delG	ENSP00000354490:p.Gly97fs		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.F98fs	ENST00000361216.3	37	c.286	CCDS1196.1	1																																																																																			0	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	protein_coding	OTTHUMT00000060642.2	64	136	0	0.00	0	0	G	NM_000702	0	0		160093111	1	no_errors	ENST00000361216	ensembl	human	known	74_37	frame_shift_del	56	158	25.33	26.85	19	58	DEL	1	0
RP11-404F10.2	0	genome.wustl.edu	37	1	160643186	160643187	+	RNA	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:160643186_160643187insT	ENST00000443928.2	+	0	385_386				RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA																							ggttgtctctgttttttgtaga	0.49																																							0											0																																												0																															1.37:g.160643192_160643192dupT				RNA	INS	0	NULL	ENST00000443928.2	37	NULL		1																																																																																			0	0		0.490	RP11-404F10.2-001	KNOWN	basic|exp_conf	antisense	ENSG00000228863	antisense	OTTHUMT00000060453.3	12	174	0	0.00	0	0	0		0	0		160643187	1	no_errors	ENST00000443928	ensembl	human	known	74_37	rna	11	209	38.89	20.53	7	54	INS	0.004:0.000	T
NUF2	83540	genome.wustl.edu	37	1	163313649	163313649	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:163313649delA	ENST00000271452.3	+	10	1075	c.796delA	c.(796-798)aaafs	p.K266fs	NUF2_ENST00000367900.3_Frame_Shift_Del_p.K266fs|NUF2_ENST00000524800.1_Frame_Shift_Del_p.K266fs	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	266	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CCAGAAGCTTAAAAATGCCAG	0.249																																							0											0													26.0	30.0	28.0					1																	163313649		2141	4259	6400	SO:0001589	frameshift_variant	0			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.796delA	1.37:g.163313649delA	ENSP00000271452:p.Lys266fs		Q8WU69|Q96HJ4|Q96Q78	Frame_Shift_Del	DEL	pfam_Kinetochore_Nuf2	p.N267fs	ENST00000271452.3	37	c.796	CCDS1245.1	1																																																																																			0	NULL		0.249	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUF2	protein_coding	OTTHUMT00000082812.1	332	169	0	0.00	0	0	A	NM_145697	0	0		163313649	1	no_errors	ENST00000271452	ensembl	human	known	74_37	frame_shift_del	279	234	20.74	19.59	73	57	DEL	0.906	0
GPR161	23432	genome.wustl.edu	37	1	168054869	168054869	+	Frame_Shift_Del	DEL	C	C	-	rs147976800		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:168054869delC	ENST00000367838.1	-	8	1803	c.1490delG	c.(1489-1491)ggcfs	p.G498fs	GPR161_ENST00000539777.1_Frame_Shift_Del_p.G420fs|GPR161_ENST00000537209.1_Frame_Shift_Del_p.G518fs|GPR161_ENST00000367836.1_Frame_Shift_Del_p.G366fs|GPR161_ENST00000361697.2_Frame_Shift_Del_p.G498fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.G498fs|GPR161_ENST00000271357.5_Frame_Shift_Del_p.G498fs|GPR161_ENST00000546300.1_Frame_Shift_Del_p.G384fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	498					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.G497fs*13(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCGAAGCCGCCCCCCGGGAC	0.582																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											64.0	78.0	74.0					1																	168054869		2203	4300	6503	SO:0001589	frameshift_variant	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1490delG	1.37:g.168054869delC	ENSP00000356812:p.Gly498fs		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G517fs	ENST00000367838.1	37	c.1550	CCDS1268.1	1																																																																																			0	NULL		0.582	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	protein_coding	OTTHUMT00000083829.1	44	66	0	0.00	0	0	C	NM_007369	0	0		168054869	-1	no_errors	ENST00000537209	ensembl	human	known	74_37	frame_shift_del	38	112	19.15	22.76	9	33	DEL	0	0
ANKRD45	339416	genome.wustl.edu	37	1	173604977	173604977	+	Intron	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:173604977delA	ENST00000333279.2	-	4	557				RP11-360D2.1_ENST00000417563.1_RNA	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45											NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AAGAAACACCAAAAAAAGGTG	0.323																																							0											0																																										SO:0001627	intron_variant	0				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.497-8679T>-	1.37:g.173604977delA			A1A4G2|Q6ZST1	RNA	DEL	0	NULL	ENST00000333279.2	37	NULL	CCDS1309.1	1																																																																																			0	0		0.323	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232113	protein_coding	OTTHUMT00000097580.2	51	276	0	0.72	0	2	A	NM_198493	0	0		173604977	1	no_errors	ENST00000417563	ensembl	human	known	74_37	rna	21	339	38.24	24.16	13	108	DEL	0.989	0
CENPL	91687	genome.wustl.edu	37	1	173776460	173776461	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:173776460_173776461insA	ENST00000345664.6	-	3	577_578	c.364_365insT	c.(364-366)tctfs	p.S122fs	CENPL_ENST00000367710.3_Frame_Shift_Ins_p.S122fs|CENPL_ENST00000356198.2_Frame_Shift_Ins_p.S122fs|Y_RNA_ENST00000516548.1_RNA	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	122					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TAGGAGAGTAGAAAAAATCACT	0.381																																							0											0																																										SO:0001589	frameshift_variant	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.365dupT	1.37:g.173776466_173776466dupA	ENSP00000323543:p.Ser122fs		Q5TEL5|Q96ND4	Frame_Shift_Ins	INS	NULL	p.S122fs	ENST00000345664.6	37	c.365_364	CCDS30938.1	1																																																																																			0	NULL		0.381	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	protein_coding	OTTHUMT00000084213.1	178	307	0	0.00	0	0	0	NM_033319	0	0		173776461	-1	no_errors	ENST00000356198	ensembl	human	known	74_37	frame_shift_ins	154	409	28.7	15.67	62	76	INS	1.000:1.000	A
RGL1	23179	genome.wustl.edu	37	1	183857685	183857685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:183857685delA	ENST00000360851.3	+	8	1207	c.1029delA	c.(1027-1029)ttafs	p.L343fs	RGL1_ENST00000536277.1_Frame_Shift_Del_p.L341fs|RGL1_ENST00000304685.4_Frame_Shift_Del_p.L378fs|RGL1_ENST00000539189.1_Frame_Shift_Del_p.L343fs			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	343	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCTATCGGTTAAAAAAGACTT	0.458																																							0											0													117.0	122.0	121.0					1																	183857685		2203	4299	6502	SO:0001589	frameshift_variant	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1029delA	1.37:g.183857685delA	ENSP00000354097:p.Leu343fs		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Frame_Shift_Del	DEL	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.K380fs	ENST00000360851.3	37	c.1134		1																																																																																			0	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.458	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	protein_coding	OTTHUMT00000085742.1	113	240	0	0.00	0	0	A	NM_015149	0	0		183857685	1	no_errors	ENST00000304685	ensembl	human	known	74_37	frame_shift_del	69	321	14.81	18.32	12	72	DEL	0.998	0
DNAH14	127602	genome.wustl.edu	37	1	225211543	225211543	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:225211543delA	ENST00000445597.2	+	9	1391	c.1391delA	c.(1390-1392)gaafs	p.E464fs	DNAH14_ENST00000366849.1_Frame_Shift_Del_p.E422fs|DNAH14_ENST00000430092.1_Frame_Shift_Del_p.E445fs|DNAH14_ENST00000439375.2_Frame_Shift_Del_p.E445fs|DNAH14_ENST00000400952.3_Frame_Shift_Del_p.E445fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	464					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTTTCAGTGGAAAAAAAGAAT	0.299																																							0											0													83.0	68.0	72.0					1																	225211543		692	1590	2282	SO:0001589	frameshift_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1391delA	1.37:g.225211543delA	ENSP00000409472:p.Glu464fs		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.K447fs	ENST00000445597.2	37	c.1334		1																																																																																			0	NULL		0.299	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	protein_coding	OTTHUMT00000331217.3	66	184	0	0.54	0	1	A	XM_059166	0	0		225211543	1	no_errors	ENST00000430092	ensembl	human	known	74_37	frame_shift_del	49	208	20.97	21.51	13	57	DEL	0.965	0
ARID4B	51742	genome.wustl.edu	37	1	235345419	235345419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:235345419delT	ENST00000264183.3	-	20	3312	c.2815delA	c.(2815-2817)acgfs	p.T939fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.T853fs|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.T939fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	939					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTCAGCGTTTTTTTAGGC	0.473																																							0											0													62.0	66.0	65.0					1																	235345419		2203	4300	6503	SO:0001589	frameshift_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2815delA	1.37:g.235345419delT	ENSP00000264183:p.Thr939fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T939fs	ENST00000264183.3	37	c.2815	CCDS31061.1	1																																																																																			0	NULL		0.473	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	protein_coding	OTTHUMT00000095566.3	65	231	0	0.43	0	1	T	NM_016374	0	0		235345419	-1	no_errors	ENST00000264183	ensembl	human	known	74_37	frame_shift_del	51	262	16.39	21.56	10	72	DEL	1	0
HEATR1	55127	genome.wustl.edu	37	1	236744567	236744569	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:236744567_236744569delGAG	ENST00000366582.3	-	20	2822_2824	c.2708_2710delCTC	c.(2707-2712)tctcag>tag	p.903_904SQ>*	HEATR1_ENST00000366581.2_In_Frame_Del_p.903_904SQ>*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	903					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTGTCTTCTGAGAAGAAAGCAT	0.409																																							0											0																																										SO:0001651	inframe_deletion	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2708_2710delCTC	1.37:g.236744567_236744569delGAG	ENSP00000355541:p.Ser903_Gln904delins*		Q5T3Q8|Q6P197|Q9NW23	In_Frame_Del	DEL	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.SQKTQ903in_frame_del*	ENST00000366582.3	37	c.2710_2708	CCDS31066.1	1																																																																																			0	superfamily_ARM-type_fold		0.409	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	protein_coding	OTTHUMT00000096635.1	46	146	0	0.00	0	0	GAG	XM_375853	0	0		236744569	-1	no_errors	ENST00000366582	ensembl	human	known	74_37	in_frame_del	45	213	15.09	17.76	8	46	DEL	0.998:0.920:0.863	0
CHRM3	1131	genome.wustl.edu	37	1	240072444	240072444	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:240072444delA	ENST00000255380.4	+	5	2472	c.1693delA	c.(1693-1695)aaafs	p.K567fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	567					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGTGTGACAAAAAAAAGAG	0.502																																							0											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|breast(1)											49.0	49.0	49.0					1																	240072444		2203	4300	6503	SO:0001589	frameshift_variant	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1693delA	1.37:g.240072444delA	ENSP00000255380:p.Lys567fs		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.K567fs	ENST00000255380.4	37	c.1693	CCDS1616.1	1																																																																																			0	NULL		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	protein_coding	OTTHUMT00000095644.2	28	93	0	1.06	0	1	A	NM_000740	0	0		240072444	1	no_errors	ENST00000255380	ensembl	human	known	74_37	frame_shift_del	33	115	17.5	16.06	7	22	DEL	1	0
KIF26B	55083	genome.wustl.edu	37	1	245849693	245849694	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:245849693_245849694insA	ENST00000407071.2	+	12	3848_3849	c.3408_3409insA	c.(3409-3411)aaafs	p.K1137fs	KIF26B_ENST00000366518.4_Frame_Shift_Ins_p.K756fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1137					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCAGGTTTTGAAAAAATCCAT	0.589																																							0											0																																										SO:0001589	frameshift_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3414dupA	1.37:g.245849699_245849699dupA	ENSP00000385545:p.Lys1137fs		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1138fs	ENST00000407071.2	37	c.3408_3409	CCDS44342.1	1																																																																																			0	NULL		0.589	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	protein_coding	OTTHUMT00000381037.1	50	156	0	0.00	0	0	0	XM_371354	0	0		245849694	1	no_errors	ENST00000407071	ensembl	human	known	74_37	frame_shift_ins	43	164	24.56	20.39	14	42	INS	0.910:1.000	A
SUPT7L	9913	genome.wustl.edu	37	2	27878452	27878453	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:27878452_27878453delAG	ENST00000337768.5	-	5	1330_1331	c.761_762delCT	c.(760-762)tctfs	p.S254fs	SUPT7L_ENST00000405491.1_Frame_Shift_Del_p.S252fs|SUPT7L_ENST00000464789.2_Frame_Shift_Del_p.S252fs|SUPT7L_ENST00000406540.1_Frame_Shift_Del_p.S252fs|SUPT7L_ENST00000404798.2_Frame_Shift_Del_p.S119fs	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	254					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CATATTCTTCAGAGAGTTGCTT	0.436																																							0											0																																										SO:0001589	frameshift_variant	0			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.761_762delCT	2.37:g.27878456_27878457delAG	ENSP00000336750:p.Ser254fs		B4E3W3|Q6IB21|Q9H2T6	Frame_Shift_Del	DEL	pfam_BTP,smart_BTP	p.S254fs	ENST00000337768.5	37	c.762_761	CCDS42667.1	2																																																																																			0	NULL		0.436	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	protein_coding	OTTHUMT00000324568.1	29	247	0	0.00	0	0	AG	NM_014860	0	0		27878453	-1	no_errors	ENST00000337768	ensembl	human	known	74_37	frame_shift_del	19	167	32.14	29.83	9	71	DEL	0.940:1.000	0
RASGRP3	25780	genome.wustl.edu	37	2	33749514	33749514	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:33749514delA	ENST00000403687.3	+	9	1446	c.706delA	c.(706-708)aaafs	p.K236fs	RASGRP3_ENST00000407811.1_Frame_Shift_Del_p.K236fs|RASGRP3_ENST00000402538.3_Frame_Shift_Del_p.K236fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	236	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCTTCAGCTCAAAAATTTTAA	0.353																																							0											0													51.0	49.0	49.0					2																	33749514		1820	4083	5903	SO:0001589	frameshift_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.706delA	2.37:g.33749514delA	ENSP00000384192:p.Lys236fs		D6W583|O94931|Q53SD7	Frame_Shift_Del	DEL	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.N237fs	ENST00000403687.3	37	c.706	CCDS46256.1	2																																																																																			0	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.353	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	protein_coding	OTTHUMT00000325462.2	69	217	0	0.00	0	0	A	NM_015376	0	0		33749514	1	no_errors	ENST00000402538	ensembl	human	known	74_37	frame_shift_del	41	183	30.51	27.09	18	68	DEL	1	0
HEATR5B	54497	genome.wustl.edu	37	2	37276898	37276898	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:37276898delT	ENST00000233099.5	-	18	2689	c.2594delA	c.(2593-2595)aacfs	p.N865fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.N865fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	865						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TAAGATGGGGTTTGGGTTGTC	0.458																																							0											0													91.0	82.0	85.0					2																	37276898		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2594delA	2.37:g.37276898delT	ENSP00000233099:p.Asn865fs		B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.N865fs	ENST00000233099.5	37	c.2594	CCDS33181.1	2																																																																																			0	superfamily_ARM-type_fold		0.458	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	protein_coding	OTTHUMT00000325492.1	65	173	0	0.00	0	0	T	NM_019024	0	0		37276898	-1	no_errors	ENST00000233099	ensembl	human	known	74_37	frame_shift_del	47	178	29.85	28.51	20	71	DEL	1	0
PPM1B	5495	genome.wustl.edu	37	2	44428376	44428377	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AT	AT	AT	-	AT	AT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:44428376_44428377delAT	ENST00000282412.4	+	2	450_451	c.38_39delAT	c.(37-39)catfs	p.H13fs	PPM1B_ENST00000409895.4_Frame_Shift_Del_p.H13fs|PPM1B_ENST00000378551.2_Frame_Shift_Del_p.H13fs|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Frame_Shift_Del_p.H13fs|PPM1B_ENST00000345249.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	13					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTGAAAAACATAATGCTCATG	0.376																																							0											0																																										SO:0001589	frameshift_variant	0			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.38_39delAT	2.37:g.44428376_44428377delAT	ENSP00000282412:p.His13fs		Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom	p.H13fs	ENST00000282412.4	37	c.38_39	CCDS1817.1	2																																																																																			0	superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.376	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	protein_coding	OTTHUMT00000250672.1	112	277	0	0.00	0	0	AT	NM_002706	0	0		44428377	1	no_errors	ENST00000282412	ensembl	human	known	74_37	frame_shift_del	53	246	27.4	22.64	20	72	DEL	1.000:1.000	0
MSH2	4436	genome.wustl.edu	37	2	47639588	47639588	+	Frame_Shift_Del	DEL	A	A	-	rs63749897|rs587779975		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:47639588delA	ENST00000233146.2	+	4	904	c.681delA	c.(679-681)agafs	p.R227fs	MSH2_ENST00000543555.1_Frame_Shift_Del_p.R161fs|MSH2_ENST00000406134.1_Frame_Shift_Del_p.R227fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	227					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCACAGAAAGAAAAAAAGCTG	0.328			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														0	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											62.0	62.0	62.0					2																	47639588		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.681delA	2.37:g.47639588delA	ENSP00000233146:p.Arg227fs		B4E2Z2|O75488	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.A230fs	ENST00000233146.2	37	c.681	CCDS1834.1	2																																																																																			0	pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_MSH2		0.328	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	protein_coding	OTTHUMT00000250805.3	153	228	0	0.00	0	0	A		rs63749897	GA->G		47639588	1	no_errors	ENST00000233146	ensembl	human	known	74_37	frame_shift_del	80	201	23.08	21.18	24	54	DEL	0.994	0
C2orf73	129852	genome.wustl.edu	37	2	54587451	54587451	+	Frame_Shift_Del	DEL	A	A	-	rs185297941	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:54587451delA	ENST00000398634.2	+	5	658	c.616delA	c.(616-618)aaafs	p.K207fs	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	207										breast(2)	2						AGAACAGTCCAAAAAAACAGA	0.438																																							0											0													44.0	42.0	43.0					2																	54587451		1893	4112	6005	SO:0001589	frameshift_variant	0			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.616delA	2.37:g.54587451delA	ENSP00000381631:p.Lys207fs		A0AV79|A0AV81|Q8N7V4	Frame_Shift_Del	DEL	NULL	p.T208fs	ENST00000398634.2	37	c.616	CCDS46285.1	2																																																																																			0	NULL		0.438	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	protein_coding	OTTHUMT00000324075.2	53	182	0	0.00	0	0	A	NM_001100396	0	0		54587451	1	no_errors	ENST00000398634	ensembl	human	known	74_37	frame_shift_del	34	202	34.62	17.55	18	43	DEL	0.824	0
TET3	200424	genome.wustl.edu	37	2	74329152	74329152	+	Frame_Shift_Del	DEL	G	G	-	rs190925009	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:74329152delG	ENST00000409262.3	+	9	4832	c.4832delG	c.(4831-4833)tggfs	p.W1611fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1611					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCGCAAGTGGGGGGGCACT	0.687																																							0											0													11.0	15.0	13.0					2																	74329152		2045	4166	6211	SO:0001589	frameshift_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4832delG	2.37:g.74329152delG	ENSP00000386869:p.Trp1611fs		A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	NULL	p.G1613fs	ENST00000409262.3	37	c.4832	CCDS46339.1	2																																																																																			0	NULL		0.687	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	16	20	0	0.00	0	0	G		0	0		74329152	1	no_errors	ENST00000409262	ensembl	human	known	74_37	frame_shift_del	6	18	45.45	28.00	5	7	DEL	1	0
TGOLN2	10618	genome.wustl.edu	37	2	85553754	85553756	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CTT	CTT	CTT	-	CTT	CTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:85553754_85553756delCTT	ENST00000409232.3	-	2	1160_1162	c.1099_1101delAAG	c.(1099-1101)aagdel	p.K367del	TGOLN2_ENST00000282120.2_In_Frame_Del_p.K211del|TGOLN2_ENST00000398263.2_In_Frame_Del_p.K309del|TGOLN2_ENST00000377386.3_In_Frame_Del_p.K367del|TGOLN2_ENST00000444342.2_In_Frame_Del_p.K367del|TGOLN2_ENST00000409015.1_In_Frame_Del_p.K367del			O43493	TGON2_HUMAN	trans-golgi network protein 2	367						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											AAAGGTCATCCTTCTCGCTACCC	0.532																																							0											0																																										SO:0001651	inframe_deletion	0			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1099_1101delAAG	2.37:g.85553754_85553756delCTT	ENSP00000386443:p.Lys367del		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	In_Frame_Del	DEL	NULL	p.K367in_frame_del	ENST00000409232.3	37	c.1101_1099	CCDS56126.1	2																																																																																			0	NULL		0.532	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	protein_coding	OTTHUMT00000329045.2	44	233	0	0.00	0	0	CTT	NM_006464	0	0		85553756	-1	no_errors	ENST00000377386	ensembl	human	known	74_37	in_frame_del	23	148	30.3	26.00	10	52	DEL	0.005:0.004:0.001	0
UNC50	25972	genome.wustl.edu	37	2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:99232795delT	ENST00000357765.2	+	4	679	c.527delT	c.(526-528)cttfs	p.L176fs	UNC50_ENST00000409975.1_Frame_Shift_Del_p.L193fs|UNC50_ENST00000409347.1_Frame_Shift_Del_p.L193fs	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	176					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTATCCAGCTTTTTTTCATC	0.408																																							0											0													218.0	201.0	207.0					2																	99232795		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.527delT	2.37:g.99232795delT	ENSP00000350409:p.Leu176fs		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Frame_Shift_Del	DEL	pfam_UNC-50	p.F195fs	ENST00000357765.2	37	c.578	CCDS2035.1	2																																																																																			0	pfam_UNC-50		0.408	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	protein_coding	OTTHUMT00000252987.1	104	247	0	0.00	0	0	T	NM_014044	0	0		99232795	1	no_errors	ENST00000409347	ensembl	human	known	74_37	frame_shift_del	59	226	24.36	28.03	19	88	DEL	0.997	0
SEPT10	151011	genome.wustl.edu	37	2	110301828	110301828	+	3'UTR	DEL	T	T	-	rs562796959	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:110301828delT	ENST00000397712.2	-	0	1801				SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000356688.4_Frame_Shift_Del_p.K502fs|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000468616.1_5'Flank	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ACACTTCTAGTTTTTTTTTAA	0.318																																							0											0													67.0	61.0	63.0					2																	110301828		692	1588	2280	SO:0001624	3_prime_UTR_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*58A>-	2.37:g.110301828delT			B3KRQ9|Q86VP5|Q9HAH6	Frame_Shift_Del	DEL	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase	p.K502fs	ENST00000397712.2	37	c.1506	CCDS46383.1	2																																																																																			0	NULL		0.318	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	protein_coding	OTTHUMT00000337804.1	216	127	0	0.78	0	1	T	NM_144710	0	0		110301828	-1	no_errors	ENST00000356688	ensembl	human	putative	74_37	frame_shift_del	123	131	26.79	17.61	45	28	DEL	0.004	0
CXCR4	7852	genome.wustl.edu	37	2	136872415	136872415	+	3'UTR	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:136872415delA	ENST00000241393.3	-	0	1187				CXCR4_ENST00000409817.1_3'UTR|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4						activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TTTATCGTATAAAAAAAAGTC	0.328																																							0											0													44.0	46.0	45.0					2																	136872415		2198	4300	6498	SO:0001624	3_prime_UTR_variant	0			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.*24T>-	2.37:g.136872415delA			B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	RNA	DEL	0	NULL	ENST00000241393.3	37	NULL	CCDS46420.1	2																																																																																			0	0		0.328	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	protein_coding	OTTHUMT00000331732.1	52	240	0	0.00	0	0	A		0	0		136872415	-1	no_errors	ENST00000466288	ensembl	human	known	74_37	rna	25	216	41.86	25.52	18	74	DEL	0	0
NEB	4703	genome.wustl.edu	37	2	152354461	152354462	+	Intron	INS	-	-	TT			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	TT	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:152354461_152354462insTT	ENST00000172853.10	-	140	18973				RIF1_ENST00000457745.1_3'UTR|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Intron|NEB_ENST00000427231.2_Intron|NEB_ENST00000603639.1_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000397336.2_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000397345.3_Intron			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATCCATGTTATTTTTTTTCAT	0.426																																							0											0																																										SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18826-1579->AA	2.37:g.152354468_152354469dupTT			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	RNA	INS	0	NULL	ENST00000172853.10	37	NULL		2																																																																																			0	0		0.426	NEB-201	KNOWN	basic	protein_coding	RIF1	protein_coding		72	55	0	0.00	0	0	0	NM_004543	0	0		152354462	1	no_errors	ENST00000457745	ensembl	human	known	74_37	rna	46	58	26.98	23.68	17	18	INS	0.004:0.007	TT
CCDC148	130940	genome.wustl.edu	37	2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:159077217delT	ENST00000283233.5	-	11	1573	c.1260delA	c.(1258-1260)aaafs	p.K420fs	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Frame_Shift_Del_p.K429fs	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	420	Glu/Lys-rich.							p.K420fs*15(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGCCCAGTATTTTTTTATCT	0.318																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											75.0	69.0	71.0					2																	159077217		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1260delA	2.37:g.159077217delT	ENSP00000283233:p.Lys420fs		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Frame_Shift_Del	DEL	NULL	p.K420fs	ENST00000283233.5	37	c.1260	CCDS33304.1	2																																																																																			0	NULL		0.318	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	protein_coding	OTTHUMT00000333270.1	146	287	0	0.00	0	0	T	NM_138803	0	0		159077217	-1	no_errors	ENST00000283233	ensembl	human	known	74_37	frame_shift_del	57	217	33.72	30.00	29	93	DEL	1	0
XIRP2	129446	genome.wustl.edu	37	2	168099958	168099958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:168099958delG	ENST00000409195.1	+	9	2145	c.2056delG	c.(2056-2058)gggfs	p.G687fs	XIRP2_ENST00000295237.9_Frame_Shift_Del_p.G687fs|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.G465fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	512					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGACATAACTGGGGGGGATGT	0.418																																							0											0													82.0	79.0	80.0					2																	168099958		1931	4141	6072	SO:0001589	frameshift_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2056delG	2.37:g.168099958delG	ENSP00000386840:p.Gly687fs		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	pfam_Actin-binding_Xin_repeat	p.D688fs	ENST00000409195.1	37	c.2056	CCDS42769.1	2																																																																																			0	NULL		0.418	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	45	181	0	0.55	0	1	G	NM_152381	0	0		168099958	1	no_errors	ENST00000295237	ensembl	human	known	74_37	frame_shift_del	21	185	38.24	28.29	13	73	DEL	0.997	0
RAPGEF4	11069	genome.wustl.edu	37	2	173679336	173679337	+	Intron	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:173679336_173679337insT	ENST00000397081.3	+	4	587				RAPGEF4_ENST00000264111.6_Intron|RAPGEF4_ENST00000409036.1_Intron	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ACAAGACATCCTTTTTTTTGTT	0.307																																							0											0																																										SO:0001627	intron_variant	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.444+183->T	2.37:g.173679344_173679344dupT			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	RNA	INS	0	NULL	ENST00000397081.3	37	NULL	CCDS42775.1	2																																																																																			0	0		0.307	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	protein_coding	OTTHUMT00000257864.2	76	310	0	0.00	0	0	0	NM_007023	0	0		173679337	1	no_errors	ENST00000464976	ensembl	human	known	74_37	rna	46	263	25.81	29.30	16	109	INS	0.000:0.000	T
FSIP2	401024	genome.wustl.edu	37	2	186665038	186665039	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:186665038_186665039insA	ENST00000424728.1	+	17	11005_11006	c.11005_11006insA	c.(11005-11007)caafs	p.Q3669fs	FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.Q3758fs|AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3669										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAACTTTTTCAAAAAAATAAG	0.322																																							0											0																																										SO:0001589	frameshift_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11012dupA	2.37:g.186665045_186665045dupA	ENSP00000401306:p.Gln3669fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	NULL	p.N3760fs	ENST00000424728.1	37	c.11272_11273		2																																																																																			0	NULL		0.322	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	protein_coding	OTTHUMT00000332778.3	163	245	0	0.00	0	0	0	NM_173651	0	0		186665039	1	no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_ins	95	223	22.13	28.98	27	91	INS	0.256:0.278	A
ZDBF2	57683	genome.wustl.edu	37	2	207174428	207174428	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:207174428delA	ENST00000374423.3	+	5	5562	c.5176delA	c.(5176-5178)aaafs	p.K1728fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1728							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGGGCTGATAAAAAAAAACG	0.453																																							0											0													73.0	71.0	72.0					2																	207174428		1869	4105	5974	SO:0001589	frameshift_variant	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5176delA	2.37:g.207174428delA	ENSP00000363545:p.Lys1728fs		Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	pfam_Znf_DBF,smart_Znf_DBF	p.K1728fs	ENST00000374423.3	37	c.5176	CCDS46501.1	2																																																																																			0	NULL		0.453	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	50	200	0	0.50	0	1	A	NM_020923	0	0		207174428	1	no_errors	ENST00000374423	ensembl	human	known	74_37	frame_shift_del	26	172	18.75	32.02	6	81	DEL	0	0
SMARCAL1	50485	genome.wustl.edu	37	2	217300192	217300192	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:217300192delA	ENST00000357276.4	+	9	1947	c.1617delA	c.(1615-1617)ctafs	p.L539fs	SMARCAL1_ENST00000358207.5_Frame_Shift_Del_p.L539fs	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	539	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAAAACAGCTAAAAACCCCTT	0.408									Schimke Immuno-Osseous Dysplasia																														0											0													97.0	99.0	98.0					2																	217300192		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1617delA	2.37:g.217300192delA	ENSP00000349823:p.Leu539fs		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Frame_Shift_Del	DEL	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T541fs	ENST00000357276.4	37	c.1617	CCDS2403.1	2																																																																																			0	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.408	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	protein_coding	OTTHUMT00000256671.2	81	288	0	0.35	0	1	A		0	0		217300192	1	no_errors	ENST00000357276	ensembl	human	known	74_37	frame_shift_del	58	268	20.55	26.58	15	97	DEL	0	0
TMBIM1	64114	genome.wustl.edu	37	2	219143774	219143777	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AGAC	AGAC	AGAC	-	AGAC	AGAC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:219143774_219143777delAGAC	ENST00000444881.1	-	6	1131_1134	c.406_409delGTCT	c.(406-411)gtctacfs	p.VY136fs	TMBIM1_ENST00000258412.3_Frame_Shift_Del_p.VY136fs|TMBIM1_ENST00000445635.1_5'UTR|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Frame_Shift_Del_p.VY136fs|PNKD_ENST00000472650.1_Intron			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	136					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)	p.V136I(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACACGTAGTAGACAGCCACATTT	0.598																																							0											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.406_409delGTCT	2.37:g.219143774_219143777delAGAC	ENSP00000409738:p.Val136fs		B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Frame_Shift_Del	DEL	pfam_Bax_inhibitor_1-related	p.V136fs	ENST00000444881.1	37	c.409_406	CCDS2412.1	2																																																																																			0	pfam_Bax_inhibitor_1-related		0.598	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	protein_coding	OTTHUMT00000338559.1	31	145	0	0.00	0	0	AGAC	NM_022152	0	0		219143777	-1	no_errors	ENST00000258412	ensembl	human	known	74_37	frame_shift_del	21	129	16	20.37	4	33	DEL	0.998:0.324:0.373:0.084	0
IRS1	3667	genome.wustl.edu	37	2	227661663	227661664	+	Frame_Shift_Ins	INS	-	-	CC	rs552502879		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	CC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:227661663_227661664insCC	ENST00000305123.5	-	1	2811_2812	c.1791_1792insGG	c.(1789-1794)gggcacfs	p.H598fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	598					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H598fs*13(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCGGTGGTGCCCCCCCCGAC	0.683											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1790_1791dupGG	2.37:g.227661670_227661671dupCC	ENSP00000304895:p.His598fs	2321		Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.H597fs	ENST00000305123.5	37	c.1792_1791	CCDS2463.1	2																																																																																			0	NULL		0.683	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	protein_coding	OTTHUMT00000256886.3	63	49	0	0.00	0	0	0	NM_005544	0	0		227661664	-1	no_errors	ENST00000305123	ensembl	human	known	74_37	frame_shift_ins	27	85	25	14.14	9	14	INS	1.000:0.995	CC
COL6A3	1293	genome.wustl.edu	37	2	238232746	238232747	+	3'UTR	DEL	CA	CA	-	rs546590219		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:238232746_238232747delCA	ENST00000295550.4	-	0	10656_10657				COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000472056.1_3'UTR|COL6A3_ENST00000347401.3_3'UTR|COL6A3_ENST00000353578.4_3'UTR	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCCCTCCAGCACACACAAAAA	0.297																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.*671TG>-	2.37:g.238232752_238232753delCA			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	RNA	DEL	0	NULL	ENST00000295550.4	37	NULL	CCDS33412.1	2																																																																																			0	0		0.297	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	108	108	0.92	0.00	1	0	CA	NM_004369	0	0		238232747	-1	no_errors	ENST00000473258	ensembl	human	known	74_37	rna	55	122	11.29	14.69	7	21	DEL	0.001:0.000	0
KIF9	64147	genome.wustl.edu	37	3	47315092	47315092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:47315092delC	ENST00000265529.3	-	5	996	c.316delG	c.(316-318)gcafs	p.A106fs	KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Frame_Shift_Del_p.A106fs|KIF9_ENST00000335044.2_Frame_Shift_Del_p.A106fs|KIF9_ENST00000444589.2_Frame_Shift_Del_p.A106fs|KIF9_ENST00000487440.1_5'UTR			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	106	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCTCAGTTGCCCCCATCATG	0.557																																					Colon(44;962 1147 15977 24541)		0											0													173.0	163.0	166.0					3																	47315092		2203	4300	6503	SO:0001589	frameshift_variant	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.316delG	3.37:g.47315092delC	ENSP00000265529:p.Ala106fs		Q86Z28|Q9H8A4	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A106fs	ENST00000265529.3	37	c.316	CCDS2752.1	3																																																																																			0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.557	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	protein_coding	OTTHUMT00000257475.2	42	189	0	0.53	0	1	C		0	0		47315092	-1	no_errors	ENST00000265529	ensembl	human	known	74_37	frame_shift_del	13	64	55.17	46.22	16	55	DEL	0.868	0
DNAH1	25981	genome.wustl.edu	37	3	52420699	52420699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:52420699delC	ENST00000420323.2	+	56	9094	c.8833delC	c.(8833-8835)cccfs	p.P2946fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2946	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGCGGCCACCCCCGGGTGT	0.597																																							0											0													18.0	23.0	22.0					3																	52420699		1961	4137	6098	SO:0001589	frameshift_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8833delC	3.37:g.52420699delC	ENSP00000401514:p.Pro2946fs		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.P2946fs	ENST00000420323.2	37	c.8833	CCDS46842.1	3																																																																																			0	NULL		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	protein_coding	OTTHUMT00000350816.1	46	63	0	0.00	0	0	C	NM_015512	0	0		52420699	1	no_errors	ENST00000420323	ensembl	human	known	74_37	frame_shift_del	20	44	44.44	32.31	16	21	DEL	0.993	0
STAB1	23166	genome.wustl.edu	37	3	52543930	52543930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:52543930delG	ENST00000321725.6	+	23	2468	c.2392delG	c.(2392-2394)gggfs	p.G799fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	799					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCAGGCAGTGGGGGGGTGTG	0.652																																							0											0													36.0	39.0	38.0					3																	52543930		2203	4296	6499	SO:0001589	frameshift_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2392delG	3.37:g.52543930delG	ENSP00000312946:p.Gly799fs		A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.V800fs	ENST00000321725.6	37	c.2392	CCDS33768.1	3																																																																																			0	smart_EG-like_dom		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	protein_coding	OTTHUMT00000351380.2	35	93	0	0.00	0	0	G	NM_015136	0	0		52543930	1	no_errors	ENST00000321725	ensembl	human	known	74_37	frame_shift_del	16	38	30.43	45.71	7	32	DEL	0.999	0
PBRM1	55193	genome.wustl.edu	37	3	52637589	52637589	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:52637589delT	ENST00000296302.7	-	17	2728	c.2727delA	c.(2725-2727)aaafs	p.K909fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K924fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K877fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K924fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K909fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K909fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K909fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K909fs			Q86U86	PB1_HUMAN	polybromo 1	909					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTTTTGGCAATTTTTCCTTTC	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																		0		Rec	yes		3	3p21	55193	polybromo 1		E	0													81.0	79.0	80.0					3																	52637589		2203	4300	6503	SO:0001589	frameshift_variant	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2727delA	3.37:g.52637589delT	ENSP00000296302:p.Lys909fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.K909fs	ENST00000296302.7	37	c.2727		3																																																																																			0	NULL		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	protein_coding	OTTHUMT00000327232.1	73	301	0	0.00	0	0	T	NM_018165	0	0		52637589	-1	no_errors	ENST00000296302	ensembl	human	known	74_37	frame_shift_del	34	175	38.18	41.86	21	126	DEL	1	0
ITIH4	3700	genome.wustl.edu	37	3	52864443	52864443	+	Intron	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:52864443delT	ENST00000266041.4	-	1	187				ITIH4_ENST00000406595.1_Intron|ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000346281.5_Intron|ITIH4_ENST00000434759.3_Intron|RP5-966M1.6_ENST00000513520.1_5'UTR|RP5-966M1.6_ENST00000468472.1_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTCTGCACCATTTTTTTGCAC	0.542																																							0											0																																										SO:0001627	intron_variant	0			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.90+125A>-	3.37:g.52864443delT			B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	RNA	DEL	0	NULL	ENST00000266041.4	37	NULL	CCDS2865.1	3																																																																																			0	0		0.542	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000243696	protein_coding	OTTHUMT00000317715.1	17	134	0	1.47	0	2	T	NM_002218	0	0		52864443	-1	no_errors	ENST00000513520	ensembl	human	known	74_37	rna	3	78	57.14	39.53	4	51	DEL	0	0
PRICKLE2	166336	genome.wustl.edu	37	3	64083340	64083341	+	3'UTR	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:64083340_64083341insT	ENST00000295902.6	-	0	4506_4507				PRICKLE2_ENST00000564377.1_3'UTR|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)						establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AACAAAGCCTGTTTTTTTAAAG	0.411																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.*1387->A	3.37:g.64083347_64083347dupT			Q0VF44	RNA	INS	0	NULL	ENST00000295902.6	37	NULL	CCDS2902.1	3																																																																																			0	0		0.411	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2-AS1	protein_coding	OTTHUMT00000352219.1	82	295	0	0.00	0	0	0	NM_198859	0	0		64083341	1	no_errors	ENST00000482609	ensembl	human	known	74_37	rna	44	224	12	4.68	6	11	INS	0.004:0.008	T
ROBO1	6091	genome.wustl.edu	37	3	78710235	78710235	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:78710235delA	ENST00000464233.1	-	16	2378	c.2265delT	c.(2263-2265)tttfs	p.F755fs	ROBO1_ENST00000467549.1_Frame_Shift_Del_p.F719fs|ROBO1_ENST00000436010.2_Frame_Shift_Del_p.F716fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.F719fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	755	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAAATTCATTAAAAAAAGGGC	0.398																																							0											0													88.0	82.0	84.0					3																	78710235		1812	4078	5890	SO:0001589	frameshift_variant	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2265delT	3.37:g.78710235delA	ENSP00000420321:p.Phe755fs		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.F755fs	ENST00000464233.1	37	c.2265	CCDS54611.1	3																																																																																			0	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	protein_coding	OTTHUMT00000352610.1	91	291	0	0.00	0	0	A	NM_002941	0	0		78710235	-1	no_errors	ENST00000464233	ensembl	human	known	74_37	frame_shift_del	42	123	32.26	36.60	20	71	DEL	1	0
PLXNA1	5361	genome.wustl.edu	37	3	126751234	126751234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:126751234delC	ENST00000393409.2	+	29	5236	c.5236delC	c.(5236-5238)cccfs	p.P1746fs	PLXNA1_ENST00000251772.4_Frame_Shift_Del_p.P1723fs|PLXNA1_ENST00000505278.1_3'UTR	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1746					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCAGCCTGCCCCTGCGCTT	0.597																																							0											0													82.0	76.0	78.0					3																	126751234		2203	4300	6503	SO:0001589	frameshift_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5236delC	3.37:g.126751234delC	ENSP00000377061:p.Pro1746fs			Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1747fs	ENST00000393409.2	37	c.5236	CCDS33847.2	3																																																																																			0	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.597	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	protein_coding	OTTHUMT00000356451.1	20	74	0	0.00	0	0	C	NM_032242	0	0		126751234	1	no_errors	ENST00000393409	ensembl	human	known	74_37	frame_shift_del	13	71	43.48	22.83	10	21	DEL	1	0
RUVBL1	8607	genome.wustl.edu	37	3	127817784	127817784	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:127817784delC	ENST00000322623.5	-	7	857	c.758delG	c.(757-759)ggafs	p.G253fs	RUVBL1_ENST00000464873.1_Frame_Shift_Del_p.G193fs|RUVBL1_ENST00000417360.1_Frame_Shift_Del_p.G253fs	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	253					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GATATCTTGTCCCCCCTGCAT	0.522																																							0											0													148.0	128.0	134.0					3																	127817784		2203	4300	6503	SO:0001589	frameshift_variant	0			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.758delG	3.37:g.127817784delC	ENSP00000318297:p.Gly253fs		B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Frame_Shift_Del	DEL	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase	p.G253fs	ENST00000322623.5	37	c.758	CCDS3047.1	3																																																																																			0	pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.522	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	protein_coding	OTTHUMT00000356728.2	36	160	0	0.00	0	0	C		0	0		127817784	-1	no_errors	ENST00000322623	ensembl	human	known	74_37	frame_shift_del	22	210	24.14	16.33	7	41	DEL	0.997	0
C3orf27	23434	genome.wustl.edu	37	3	128292318	128292319	+	Frame_Shift_Ins	INS	-	-	TC	rs147519916		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	TC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:128292318_128292319insTC	ENST00000356020.2	-	3	1220_1221	c.254_255insGA	c.(253-255)gatfs	p.D85fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	85										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGAGCTCGTCATCTCTCTCTCT	0.599																																							0											0																																										SO:0001589	frameshift_variant	0			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.253_254dupGA	3.37:g.128292327_128292328dupTC	ENSP00000348302:p.Asp85fs			Frame_Shift_Ins	INS	NULL	p.D85fs	ENST00000356020.2	37	c.255_254	CCDS3050.1	3																																																																																			0	NULL		0.599	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	protein_coding	OTTHUMT00000356924.1	25	66	0	0.00	0	0	0	NM_007354	0	0		128292319	-1	no_errors	ENST00000356020	ensembl	human	known	74_37	frame_shift_ins	29	106	21.62	15.87	8	20	INS	0.000:0.075	TC
ASTE1	28990	genome.wustl.edu	37	3	130733047	130733048	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:130733047_130733048delTT	ENST00000264992.3	-	6	2334_2335	c.1893_1894delAA	c.(1891-1896)aaaaggfs	p.R632fs	ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000328560.8_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTTG	0.406																																							0											2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1893_1894delAA	3.37:g.130733055_130733056delTT	ENSP00000264992:p.Arg632fs		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1894_1893	CCDS3068.1	3																																																																																			0	NULL		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	protein_coding	OTTHUMT00000356659.1	17	99	0	0.00	0	0	TT	NM_014065	0	0		130733048	-1	no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_del	16	120	30.43	22.08	7	34	DEL	0.014:0.001	0
SSR3	6747	genome.wustl.edu	37	3	156266627	156266627	+	Intron	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:156266627delA	ENST00000265044.2	-	3	454				SSR3_ENST00000467789.1_Intron|SSR3_ENST00000478842.1_Intron|SSR3_ENST00000496050.1_Intron|SSR3_ENST00000476217.1_Intron|SSR3_ENST00000463503.1_Intron	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCTTTAAGCAAAAATCAAAA	0.313																																							0											0																																										SO:0001627	intron_variant	0			BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.359+66T>-	3.37:g.156266627delA			B2R7D0|B4E2P2|D3DNK5|Q549M4	RNA	DEL	0	NULL	ENST00000265044.2	37	NULL	CCDS3176.1	3																																																																																			0	0		0.313	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR3	protein_coding	OTTHUMT00000351521.1	75	238	0	0.00	0	0	A	NM_007107	0	0		156266627	-1	no_errors	ENST00000464138	ensembl	human	putative	74_37	rna	50	318	18.03	18.25	11	71	DEL	0.002	0
ABCC5	10057	genome.wustl.edu	37	3	183665257	183665257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:183665257delA	ENST00000334444.6	-	23	3509	c.3269delT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ACACGTAAACAAAAAAAAAGG	0.532																																							0											0													49.0	58.0	55.0					3																	183665257		1969	4159	6128	SO:0001589	frameshift_variant	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3269delT	3.37:g.183665257delA	ENSP00000333926:p.Leu1090fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L1090fs	ENST00000334444.6	37	c.3269	CCDS43176.1	3																																																																																			0	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	protein_coding	OTTHUMT00000346350.1	39	151	0	0.00	0	0	A	NM_005688	0	0		183665257	-1	no_errors	ENST00000334444	ensembl	human	known	74_37	frame_shift_del	34	144	19.05	21.31	8	39	DEL	1	0
DNAJB11	51726	genome.wustl.edu	37	3	186314953	186314955	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	GGA	GGA	GGA	-	GGA	GGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:186314953_186314955delGGA	ENST00000538831.1	+	1	201_203	c.189_191delGGA	c.(187-192)cgggag>cgg	p.E65del				Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	0	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GGAAGCGGCGGGAGGAGAAGCTC	0.532																																							0											0																																										SO:0001651	inframe_deletion	0			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000538831.1:c.189_191delGGA	3.37:g.186314956_186314958delGGA	ENSP00000440189:p.Glu65del		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	In_Frame_Del	DEL	pfam_DUF2346	p.E65in_frame_del	ENST00000538831.1	37	c.189_191		3																																																																																			0	pfam_DUF2346		0.532	DNAJB11-202	KNOWN	basic	protein_coding	DNAJB11	protein_coding		95	38	0	0.00	0	0	GGA		0	0		186314955	1	no_errors	ENST00000538831	ensembl	human	known	74_37	in_frame_del	71	53	21.98	11.67	20	7	DEL	0.003:0.002:0.002	0
MB21D2	151963	genome.wustl.edu	37	3	192516279	192516280	+	Frame_Shift_Ins	INS	-	-	T	rs34835215		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:192516279_192516280insT	ENST00000392452.2	-	2	1691_1692	c.1371_1372insA	c.(1369-1374)aaactgfs	p.L458fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	458							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGCTGCTGCAGTTTTTTTGCCA	0.51																																							0											0																																										SO:0001589	frameshift_variant	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1372dupA	3.37:g.192516286_192516286dupT	ENSP00000376246:p.Leu458fs		Q86VD8	Frame_Shift_Ins	INS	pfam_Mab-21_dom	p.L457fs	ENST00000392452.2	37	c.1372_1371	CCDS3302.2	3																																																																																			0	NULL		0.510	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	protein_coding	OTTHUMT00000341543.1	28	205	0	0.00	0	0	0	NM_178496	rs34835215	G->GT		192516280	-1	no_errors	ENST00000392452	ensembl	human	known	74_37	frame_shift_ins	17	239	41.38	17.30	12	50	INS	1.000:1.000	T
UBXN7	26043	genome.wustl.edu	37	3	196159010	196159011	+	Intron	INS	-	-	G	rs375758398		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:196159010_196159011insG	ENST00000296328.4	-	1	148				UBXN7-AS1_ENST00000442941.1_RNA|UBXN7-AS1_ENST00000598881.1_RNA|UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7							Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTATCGGGAGCGGGGGGGGGCT	0.693																																							0											0																																										SO:0001627	intron_variant	0			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.73+186->C	3.37:g.196159019_196159019dupG			D3DXB3|Q6ZP77|Q86X20|Q8N327	RNA	INS	0	NULL	ENST00000296328.4	37	NULL	CCDS43191.1	3																																																																																			0	0		0.693	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7-AS1	protein_coding	OTTHUMT00000340938.2	23	13	0	0.00	0	0	0	XM_087353	0	0		196159011	1	no_errors	ENST00000598881	ensembl	human	known	74_37	rna	50	19	12.28	17.39	7	4	INS	0.003:0.004	G
CPZ	8532	genome.wustl.edu	37	4	8609110	8609110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:8609110delC	ENST00000360986.4	+	7	1359	c.1185delC	c.(1183-1185)cacfs	p.H395fs	CPZ_ENST00000315782.6_Frame_Shift_Del_p.H384fs|CPZ_ENST00000382480.2_Frame_Shift_Del_p.H258fs|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	395					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTCCAAGCACCCCCAGGAGG	0.602											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													115.0	97.0	103.0					4																	8609110		2203	4300	6503	SO:0001589	frameshift_variant	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1185delC	4.37:g.8609110delC	ENSP00000354255:p.His395fs	650	O00520|Q96MX2	Frame_Shift_Del	DEL	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.Q397fs	ENST00000360986.4	37	c.1185	CCDS33953.1	4																																																																																			0	pfam_Peptidase_M14,smart_Peptidase_M14		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	protein_coding	OTTHUMT00000207001.4	55	154	0	0.00	0	0	C	NM_003652	0	0		8609110	1	no_errors	ENST00000360986	ensembl	human	known	74_37	frame_shift_del	22	129	29.03	28.73	9	52	DEL	0.997	0
TBC1D1	23216	genome.wustl.edu	37	4	38134424	38134427	+	Intron	DEL	TTTT	TTTT	-	rs71190957|rs61642658		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TTTT	TTTT	TTTT	-	TTTT	TTTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:38134424_38134427delTTTT	ENST00000261439.4	+	19	3487				TBC1D1_ENST00000407365.1_Intron|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAATGAGAGGTTTTTTTTTTTTTT	0.27																																							0											0																																										SO:0001627	intron_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3133-278TTTT>-	4.37:g.38134432_38134435delTTTT			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	RNA	DEL	0	NULL	ENST00000261439.4	37	NULL	CCDS33972.1	4																																																																																			0	0		0.270	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	protein_coding	OTTHUMT00000317443.2	166	65	0	1.52	0	1	TTTT	NM_015173	0	0		38134427	1	no_errors	ENST00000405444	ensembl	human	known	74_37	rna	68	66	12.82	25.84	10	23	DEL	0.018:0.027:0.074:0.101	0
FIP1L1	81608	genome.wustl.edu	37	4	54319247	54319248	+	Frame_Shift_Ins	INS	-	-	AG	rs143671659		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	AG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:54319247_54319248insAG	ENST00000337488.6	+	16	1640_1641	c.1446_1447insAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.R409fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			gagaACGCACCAGAGAGAGAGA	0.465			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		0		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	2	Deletion - Frameshift(2)	large_intestine(1)|kidney(1)																																								SO:0001589	frameshift_variant	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1459_1460dupAG	4.37:g.54319256_54319257dupAG	ENSP00000336752:p.Arg483fs		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Ins	INS	pfam_Fip1	p.E486fs	ENST00000337488.6	37	c.1446_1447	CCDS3491.1	4																																																																																			0	NULL		0.465	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	protein_coding	OTTHUMT00000250602.1	33	94	0	1.05	0	1	0	NM_030917	0	0		54319248	1	no_errors	ENST00000337488	ensembl	human	known	74_37	frame_shift_ins	16	122	27.27	19.21	6	29	INS	0.997:0.975	AG
CENPC	1060	genome.wustl.edu	37	4	68379808	68379808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:68379808delT	ENST00000273853.6	-	8	1678	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	476					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										GTGGCATCTGTTTTTTGGAAA	0.323																																							0											0													72.0	64.0	66.0					4																	68379808		1832	4077	5909	SO:0001589	frameshift_variant	0			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1428delA	4.37:g.68379808delT	ENSP00000273853:p.Lys476fs		Q8IW27|Q9P0M5	Frame_Shift_Del	DEL	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.K476fs	ENST00000273853.6	37	c.1428	CCDS47063.1	4																																																																																			0	NULL		0.323	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	protein_coding	OTTHUMT00000362001.2	91	266	0	0.00	0	0	T		0	0		68379808	-1	no_errors	ENST00000273853	ensembl	human	known	74_37	frame_shift_del	48	185	25	25.40	16	63	DEL	0.061	0
UGT2A3	79799	genome.wustl.edu	37	4	69795582	69795583	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:69795582_69795583insA	ENST00000251566.4	-	6	1562_1563	c.1532_1533insT	c.(1531-1533)ttafs	p.L511fs	UGT2A3_ENST00000420231.2_Frame_Shift_Ins_p.L222fs	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	511					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACAGGAAAATAAAAAACATTT	0.381																																							0											0										2,4264		0,2,2131						-0.2	0.0			39	0,8254		0,0,4127	no	frameshift	UGT2A3	NM_024743.3		0,2,6258	A1A1,A1R,RR		0.0,0.0469,0.016				2,12518				SO:0001589	frameshift_variant	0				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1533dupT	4.37:g.69795588_69795588dupA	ENSP00000251566:p.Leu511fs		Q9H6S4	Frame_Shift_Ins	INS	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L511fs	ENST00000251566.4	37	c.1533_1532	CCDS3525.1	4																																																																																			0	pfam_UDP_glucos_trans		0.381	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	protein_coding	OTTHUMT00000251564.1	84	86	0	0.00	0	0	0	NM_024743	0	0		69795583	-1	no_errors	ENST00000251566	ensembl	human	known	74_37	frame_shift_ins	45	45	35.71	27.42	25	17	INS	0.027:0.056	A
COX18	285521	genome.wustl.edu	37	4	73930982	73930982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:73930982delC	ENST00000295890.4	-	3	674	c.583delG	c.(583-585)gcafs	p.A196fs	COX18_ENST00000507544.2_Frame_Shift_Del_p.A196fs	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	196					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATGTGCTGCCCCCGTGCTT	0.378																																							0											0													88.0	84.0	85.0					4																	73930982		2203	4300	6503	SO:0001589	frameshift_variant	0			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.583delG	4.37:g.73930982delC	ENSP00000295890:p.Ala196fs		Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Frame_Shift_Del	DEL	pfam_Membrane_insert_OXA1/ALB3/YidC	p.A195fs	ENST00000295890.4	37	c.583	CCDS3554.1	4																																																																																			0	pfam_Membrane_insert_OXA1/ALB3/YidC		0.378	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COX18	protein_coding	OTTHUMT00000252169.2	79	107	0	0.00	0	0	C	NM_173827	0	0		73930982	-1	no_errors	ENST00000295890	ensembl	human	known	74_37	frame_shift_del	65	74	22.62	28.16	19	29	DEL	0.018	0
CDKL2	8999	genome.wustl.edu	37	4	76539580	76539580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:76539580delT	ENST00000429927.2	-	3	925	c.222delA	c.(220-222)aaafs	p.K74fs	CDKL2_ENST00000307465.4_Frame_Shift_Del_p.K74fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGTACCATCGTTTTTTTTTCT	0.323																																							0											0													98.0	104.0	102.0					4																	76539580		2202	4300	6502	SO:0001589	frameshift_variant	0			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.222delA	4.37:g.76539580delT	ENSP00000412365:p.Lys74fs		B2R695	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K74fs	ENST00000429927.2	37	c.222	CCDS3570.1	4																																																																																			0	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.323	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	protein_coding	OTTHUMT00000252409.2	74	333	0	0.00	0	0	T	NM_003948	0	0		76539580	-1	no_errors	ENST00000429927	ensembl	human	known	74_37	frame_shift_del	35	307	33.96	27.25	18	115	DEL	0.979	0
SEC31A	22872	genome.wustl.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:83785565delT	ENST00000395310.2	-	11	1566	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000436790.2_5'UTR	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353																																							0											2	Deletion - Frameshift(2)	lung(2)											89.0	91.0	91.0					4																	83785565		2203	4300	6503	SO:0001589	frameshift_variant	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1384delA	4.37:g.83785565delT	ENSP00000378721:p.Ile462fs		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I462fs	ENST00000395310.2	37	c.1384	CCDS3596.1	4																																																																																			0	NULL		0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	protein_coding	OTTHUMT00000252640.1	81	210	0	0.47	0	1	T	NM_016211	0	0		83785565	-1	no_errors	ENST00000432794	ensembl	human	known	74_37	frame_shift_del	49	137	28.99	35.07	20	74	DEL	0.985	0
ATOH1	474	genome.wustl.edu	37	4	94750382	94750382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:94750382delG	ENST00000306011.3	+	1	341	c.305delG	c.(304-306)cggfs	p.R102fs		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	102					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GTGGACGGCCGGGGGGAGCTG	0.692																																							0											0													11.0	16.0	14.0					4																	94750382		2173	4259	6432	SO:0001589	frameshift_variant	0			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.305delG	4.37:g.94750382delG	ENSP00000302216:p.Arg102fs		Q14CT9	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E104fs	ENST00000306011.3	37	c.305	CCDS3638.1	4																																																																																			0	NULL		0.692	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	protein_coding	OTTHUMT00000253585.1	25	30	0	0.00	0	0	G	NM_005172	0	0		94750382	1	no_errors	ENST00000306011	ensembl	human	known	74_37	frame_shift_del	13	19	35	13.64	7	3	DEL	0.113	0
FAT4	79633	genome.wustl.edu	37	4	126371577	126371578	+	Frame_Shift_Ins	INS	-	-	T	rs149392444		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:126371577_126371578insT	ENST00000394329.3	+	9	9419_9420	c.9406_9407insT	c.(9406-9408)attfs	p.I3136fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.I1434fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3136	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAAGAAGGCATTTTTGCAATC	0.386																																							0											0																																										SO:0001589	frameshift_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9411dupT	4.37:g.126371582_126371582dupT	ENSP00000377862:p.Ile3136fs		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3138fs	ENST00000394329.3	37	c.9406_9407	CCDS3732.3	4																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.386	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	50	184	0	0.00	0	0	0	NM_024582	0	0		126371578	1	no_errors	ENST00000394329	ensembl	human	known	74_37	frame_shift_ins	32	160	31.91	34.69	15	85	INS	0.984:0.992	T
SORBS2	8470	genome.wustl.edu	37	4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:186515044delC	ENST00000284776.7	-	19	3639	c.3130delG	c.(3130-3132)gaafs	p.E1044fs	SORBS2_ENST00000355634.5_Frame_Shift_Del_p.E1144fs|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.E948fs|SORBS2_ENST00000437304.2_Frame_Shift_Del_p.E768fs|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Del_p.E588fs|SORBS2_ENST00000448662.2_Frame_Shift_Del_p.E605fs|SORBS2_ENST00000431808.1_Frame_Shift_Del_p.E1044fs|SORBS2_ENST00000319471.9_Frame_Shift_Del_p.E675fs|RP11-301L8.2_ENST00000411847.1_RNA	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACTTACGGTTCCCCCCCACCT	0.358																																					Esophageal Squamous(153;41 2433 9491 36028)		0											4	Insertion - Frameshift(4)	haematopoietic_and_lymphoid_tissue(4)											112.0	109.0	110.0					4																	186515044		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3130delG	4.37:g.186515044delC	ENSP00000284776:p.Glu1044fs		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.E1044fs	ENST00000284776.7	37	c.3130	CCDS3845.1	4																																																																																			0	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.358	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	102	258	0	0.39	0	1	C	NM_003603	0	0		186515044	-1	no_errors	ENST00000284776	ensembl	human	known	74_37	frame_shift_del	60	264	35.48	27.07	33	98	DEL	1	0
PLEKHG4B	153478	genome.wustl.edu	37	5	163580	163580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:163580delC	ENST00000283426.6	+	11	2375	c.2325delC	c.(2323-2325)agcfs	p.S775fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	775							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		ATGCCAGGAGCCCCCCGGTCA	0.652																																							0											0													25.0	28.0	27.0					5																	163580		2200	4300	6500	SO:0001589	frameshift_variant	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2325delC	5.37:g.163580delC	ENSP00000283426:p.Ser775fs			Frame_Shift_Del	DEL	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P777fs	ENST00000283426.6	37	c.2325	CCDS34124.1	5																																																																																			0	NULL		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	45	45	0	0.00	0	0	C	NM_052909	0	0		163580	1	no_errors	ENST00000283426	ensembl	human	known	74_37	frame_shift_del	39	41	22	26.79	11	15	DEL	0.999	0
MYO10	4651	genome.wustl.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_ENST00000274203.9_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.G564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564																																							0											1	Insertion - Frameshift(1)	pancreas(1)								37,3583		4,29,1777						2.5	1.0			84	28,7806		3,22,3892	no	frameshift	MYO10	NM_012334.2		7,51,5669	A1A1,A1R,RR		0.3574,1.0221,0.5675				65,11389				SO:0001589	frameshift_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3675dupG	5.37:g.16694613_16694613dupC	ENSP00000421280:p.Gly1225fs		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.S1226fs	ENST00000513610.1	37	c.3675_3674	CCDS54834.1	5																																																																																			0	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.564	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	protein_coding	OTTHUMT00000366167.1	34	172	0	0.58	0	1	0	NM_012334	0	0		16694606	-1	no_errors	ENST00000513610	ensembl	human	known	74_37	frame_shift_ins	33	172	13.16	15.69	5	32	INS	1.000:1.000	C
LMBRD2	92255	genome.wustl.edu	37	5	36122474	36122474	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:36122474delT	ENST00000296603.4	-	9	1490	c.1028delA	c.(1027-1029)aatfs	p.N343fs		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	343						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTAGTTTCATTTTTTGCTAC	0.343																																							0											0													95.0	95.0	95.0					5																	36122474		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1028delA	5.37:g.36122474delT	ENSP00000296603:p.Asn343fs		B3KRB6|Q9NTC7	Frame_Shift_Del	DEL	pfam_LMBR1-like_membr_prot	p.N343fs	ENST00000296603.4	37	c.1028	CCDS34145.1	5																																																																																			0	pfam_LMBR1-like_membr_prot		0.343	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	protein_coding	OTTHUMT00000367552.1	152	222	0	0.00	0	0	T	NM_001007527	0	0		36122474	-1	no_errors	ENST00000296603	ensembl	human	known	74_37	frame_shift_del	73	226	24.74	27.10	24	84	DEL	1	0
NIPBL	25836	genome.wustl.edu	37	5	36984789	36984789	+	Frame_Shift_Del	DEL	A	A	-	rs34314728		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:36984789delA	ENST00000282516.8	+	10	2006	c.1507delA	c.(1507-1509)aaafs	p.K504fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K504fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	504					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGCCTTTGAAAAAAAGAAA	0.368																																							0											0													61.0	68.0	66.0					5																	36984789		2203	4298	6501	SO:0001589	frameshift_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1507delA	5.37:g.36984789delA	ENSP00000282516:p.Lys504fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.R505fs	ENST00000282516.8	37	c.1507	CCDS3920.1	5																																																																																			0	NULL		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	77	126	0	0.00	0	0	A	NM_015384	rs34314728	GA->G		36984789	1	no_errors	ENST00000282516	ensembl	human	known	74_37	frame_shift_del	59	117	25.32	23.53	20	36	DEL	1	0
CARD6	84674	genome.wustl.edu	37	5	40853094	40853094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:40853094delT	ENST00000254691.5	+	3	1859	c.1660delT	c.(1660-1662)tttfs	p.F556fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	556					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAGCTGTGTTTTTTTTCAC	0.418																																							0											0													98.0	102.0	101.0					5																	40853094		2203	4300	6503	SO:0001589	frameshift_variant	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1660delT	5.37:g.40853094delT	ENSP00000254691:p.Phe556fs		Q52LR2	Frame_Shift_Del	DEL	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD	p.F556fs	ENST00000254691.5	37	c.1660	CCDS3935.1	5																																																																																			0	NULL		0.418	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	protein_coding	OTTHUMT00000211584.3	68	271	1.45	0.00	1	0	T		0	0		40853094	1	no_errors	ENST00000254691	ensembl	human	known	74_37	frame_shift_del	53	221	26.39	30.06	19	95	DEL	0.998	0
PLK2	10769	genome.wustl.edu	37	5	57753012	57753012	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:57753012delA	ENST00000274289.3	-	7	1304	c.1004delT	c.(1003-1005)ttgfs	p.L335fs	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	335					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L335fs*68(2)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACCAACCTGCAAAAAAAAGTC	0.413																																							0											2	Deletion - Frameshift(2)	large_intestine(2)											72.0	69.0	70.0					5																	57753012		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1004delT	5.37:g.57753012delA	ENSP00000274289:p.Leu335fs		O60679|Q96CV7|Q9UE61	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.L335fs	ENST00000274289.3	37	c.1004	CCDS3974.1	5																																																																																			0	superfamily_Kinase-like_dom		0.413	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	protein_coding	OTTHUMT00000214150.1	42	171	0	0.58	0	1	A	NM_006622	0	0		57753012	-1	no_errors	ENST00000274289	ensembl	human	known	74_37	frame_shift_del	40	171	18.37	32.14	9	81	DEL	1	0
CENPH	64946	genome.wustl.edu	37	5	68492902	68492902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:68492902delA	ENST00000283006.2	+	5	424	c.337delA	c.(337-339)aaafs	p.K114fs	CENPH_ENST00000515001.1_Intron	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AACTGCACTTAAAAAAAACCT	0.323																																							0											0													51.0	55.0	54.0					5																	68492902		2203	4300	6503	SO:0001589	frameshift_variant	0			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.337delA	5.37:g.68492902delA	ENSP00000283006:p.Lys114fs			Frame_Shift_Del	DEL	pfam_CENP-H	p.N115fs	ENST00000283006.2	37	c.337	CCDS3998.1	5																																																																																			0	NULL		0.323	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPH	protein_coding	OTTHUMT00000215083.1	85	301	0	0.00	0	0	A		0	0		68492902	1	no_errors	ENST00000283006	ensembl	human	known	74_37	frame_shift_del	42	184	30	29.50	18	77	DEL	0.089	0
BDP1	55814	genome.wustl.edu	37	5	70805889	70805889	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:70805889delA	ENST00000358731.4	+	17	3233	c.2970delA	c.(2968-2970)agafs	p.R990fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	990	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGGAAGAAGAAAAATATCCC	0.453																																							0											0													68.0	69.0	69.0					5																	70805889		1820	4077	5897	SO:0001589	frameshift_variant	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2970delA	5.37:g.70805889delA	ENSP00000351575:p.Arg990fs		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_SANT/Myb	p.I992fs	ENST00000358731.4	37	c.2970	CCDS43328.1	5																																																																																			0	NULL		0.453	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	protein_coding	OTTHUMT00000374681.2	63	97	0	0.00	0	0	A	NM_018429	0	0		70805889	1	no_errors	ENST00000358731	ensembl	human	known	74_37	frame_shift_del	27	80	37.21	26.61	16	29	DEL	0	0
TCERG1	10915	genome.wustl.edu	37	5	145886723	145886723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:145886723delA	ENST00000296702.5	+	19	2901	c.2863delA	c.(2863-2865)aaafs	p.K957fs	TCERG1_ENST00000394421.2_Frame_Shift_Del_p.K936fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	957	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACTTACCAAAAAAAAGAG	0.373																																							0											0													84.0	88.0	87.0					5																	145886723		2203	4300	6503	SO:0001589	frameshift_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2863delA	5.37:g.145886723delA	ENSP00000296702:p.Lys957fs		Q2NKN2|Q59EA1	Frame_Shift_Del	DEL	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.K957fs	ENST00000296702.5	37	c.2863	CCDS4282.1	5																																																																																			0	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain		0.373	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	protein_coding	OTTHUMT00000251886.1	74	189	0	0.00	0	0	A	NM_001040006	0	0		145886723	1	no_errors	ENST00000296702	ensembl	human	known	74_37	frame_shift_del	37	141	22.92	30.88	11	63	DEL	1	0
ZKSCAN4	387032	genome.wustl.edu	37	6	28212908	28212908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:28212908delT	ENST00000377294.2	-	5	1867	c.1624delA	c.(1624-1626)actfs	p.T542fs	ZKSCAN4_ENST00000423974.2_Frame_Shift_Del_p.T387fs	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	542					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGTGAAAGAGTTTTTTTCCCT	0.443																																							0											0													155.0	141.0	146.0					6																	28212908		2203	4300	6503	SO:0001589	frameshift_variant	0			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1624delA	6.37:g.28212908delT	ENSP00000366509:p.Thr542fs		B2RE32|Q5U7L4	Frame_Shift_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T542fs	ENST00000377294.2	37	c.1624	CCDS4647.1	6																																																																																			0	pfscan_Znf_C2H2		0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	protein_coding	OTTHUMT00000040179.1	50	234	0	0.00	0	0	T	NM_019110	0	0		28212908	-1	no_errors	ENST00000377294	ensembl	human	known	74_37	frame_shift_del	25	196	30.56	25.76	11	68	DEL	0.001	0
OR2J1	442185	genome.wustl.edu	37	6	29068729	29068729	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:29068729delA	ENST00000377171.3	+	1	344	c.10delA	c.(10-12)aaafs	p.K5fs				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						AATGTTGATGAAAAAAAATGC	0.358																																							0											0																																										SO:0001589	frameshift_variant	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.10delA	6.37:g.29068729delA	ENSP00000366376:p.Lys5fs		A2AAS1|B0V1T2|Q9GZK1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.N6fs	ENST00000377171.3	37	c.10		6																																																																																			0	NULL		0.358	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	protein_coding	OTTHUMT00000076612.2	66	222	0	0.45	0	1	A	NG_004683	0	0		29068729	1	no_errors	ENST00000377171	ensembl	human	known	74_37	frame_shift_del	53	218	23.19	33.13	16	108	DEL	0	0
C6orf89	221477	genome.wustl.edu	37	6	36867370	36867371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:36867370_36867371insC	ENST00000480824.2	+	3	444_445	c.150_151insC	c.(151-153)cccfs	p.P51fs	C6orf89_ENST00000355190.3_Frame_Shift_Ins_p.P58fs|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Ins_p.P51fs|C6orf89_ENST00000510325.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	51					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431																																							0											0																																										SO:0001589	frameshift_variant	0			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.158dupC	6.37:g.36867378_36867378dupC	ENSP00000475947:p.Pro51fs		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Ins	INS	NULL	p.Q60fs	ENST00000480824.2	37	c.171_172		6																																																																																			0	NULL		0.431	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	protein_coding	OTTHUMT00000040387.2	43	254	0	0.00	0	0	0	NM_152734	0	0		36867371	1	no_errors	ENST00000355190	ensembl	human	known	74_37	frame_shift_ins	30	157	38.78	45.49	19	131	INS	0.997:0.991	C
LRFN2	57497	genome.wustl.edu	37	6	40360357	40360357	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:40360357delG	ENST00000338305.6	-	3	2237	c.1695delC	c.(1693-1695)cccfs	p.P565fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	565						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCATCTTGCTGGGGGCCTCGT	0.667																																							0											0													52.0	45.0	47.0					6																	40360357		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1695delC	6.37:g.40360357delG	ENSP00000345985:p.Pro565fs		A5PKU3|Q5SYP9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S566fs	ENST00000338305.6	37	c.1695	CCDS34443.1	6																																																																																			0	NULL		0.667	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	protein_coding	OTTHUMT00000040488.1	9	52	0	0.00	0	0	G	XM_166372	0	0		40360357	-1	no_errors	ENST00000338305	ensembl	human	known	74_37	frame_shift_del	5	51	44.44	22.73	4	15	DEL	0	0
TDRD6	221400	genome.wustl.edu	37	6	46660150	46660150	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:46660150delA	ENST00000316081.6	+	1	4285	c.4285delA	c.(4285-4287)aaafs	p.K1429fs	TDRD6_ENST00000544460.1_Frame_Shift_Del_p.K1429fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1429					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTGACAATAAAAATTCTAA	0.388																																							0											0													145.0	152.0	149.0					6																	46660150		2203	4300	6503	SO:0001589	frameshift_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4285delA	6.37:g.46660150delA	ENSP00000346065:p.Lys1429fs		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Del	DEL	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.N1430fs	ENST00000316081.6	37	c.4285	CCDS34470.1	6																																																																																			0	NULL		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	protein_coding	OTTHUMT00000040800.1	44	255	0	0.00	0	0	A	XM_166443	0	0		46660150	1	no_errors	ENST00000316081	ensembl	human	known	74_37	frame_shift_del	29	154	21.62	30.63	8	68	DEL	0	0
KHDC1	80759	genome.wustl.edu	37	6	73951945	73951946	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TA	TA	TA	-	TA	TA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:73951945_73951946delTA	ENST00000370384.3	-	4	846_847	c.346_347delTA	c.(346-348)tacfs	p.Y116fs	KHDC1_ENST00000257765.5_Frame_Shift_Del_p.Y43fs|RP11-257K9.8_ENST00000423730.3_Frame_Shift_Del_p.Y43fs	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	116	KH; atypical.					integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						GCAGCGAAGGTATGTGTCACCA	0.545																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.346_347delTA	6.37:g.73951945_73951946delTA	ENSP00000359411:p.Tyr116fs		Q5JSQ7|Q8WTV2|Q96NQ5	Frame_Shift_Del	DEL	NULL	p.Y43fs	ENST00000370384.3	37	c.128_127	CCDS59027.1	6																																																																																			0	NULL		0.545	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000243501	protein_coding	OTTHUMT00000148103.2	31	71	0	0.00	0	0	TA	NM_030568	0	0		73951946	-1	no_errors	ENST00000423730	ensembl	human	known	74_37	frame_shift_del	21	53	22.22	29.33	6	22	DEL	0.020:0.004	0
EEF1A1	1915	genome.wustl.edu	37	6	74228114	74228114	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:74228114delT	ENST00000316292.9	-	5	1983	c.992delA	c.(991-993)aatfs	p.N331fs	EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.N331fs|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.N331fs|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	331					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGGTGGGTCATTTTTGCTGTC	0.443											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0													67.0	66.0	67.0					6																	74228114		2187	4285	6472	SO:0001589	frameshift_variant	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.992delA	6.37:g.74228114delT	ENSP00000339063:p.Asn331fs	1151	P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.N331fs	ENST00000316292.9	37	c.992	CCDS4980.1	6																																																																																			0	superfamily_Transl_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc		0.443	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	protein_coding	OTTHUMT00000041210.2	80	40	0	0.00	0	0	T	NM_001402	0	0		74228114	-1	no_errors	ENST00000309268	ensembl	human	known	74_37	frame_shift_del	42	33	30	15.38	18	6	DEL	1	0
MYO6	4646	genome.wustl.edu	37	6	76599858	76599858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:76599858delA	ENST00000369977.3	+	26	2882	c.2743delA	c.(2743-2745)aaafs	p.K917fs	MYO6_ENST00000369985.4_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369981.3_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369975.1_Frame_Shift_Del_p.K917fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	917					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGCATTACAGAAAAAAAAACA	0.383																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											82.0	88.0	86.0					6																	76599858		2203	4300	6503	SO:0001589	frameshift_variant	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2743delA	6.37:g.76599858delA	ENSP00000358994:p.Lys917fs		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K917fs	ENST00000369977.3	37	c.2743	CCDS34487.1	6																																																																																			0	NULL		0.383	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	protein_coding	OTTHUMT00000041279.2	63	172	0	0.00	0	0	A	NM_004999	0	0		76599858	1	no_errors	ENST00000369981	ensembl	human	known	74_37	frame_shift_del	42	135	26.32	21.05	15	36	DEL	1	0
ZNF292	23036	genome.wustl.edu	37	6	87967203	87967204	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:87967203_87967204insT	ENST00000369577.3	+	8	3899_3900	c.3856_3857insT	c.(3856-3858)gttfs	p.V1286fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.V1281fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1286						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GACTAATTCTGTTTTTTCCCAA	0.386																																							0											0																																										SO:0001589	frameshift_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3862dupT	6.37:g.87967209_87967209dupT	ENSP00000358590:p.Val1286fs		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1288fs	ENST00000369577.3	37	c.3856_3857	CCDS47457.1	6																																																																																			0	NULL		0.386	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	protein_coding	OTTHUMT00000376192.2	61	279	0	0.00	0	0	0	NM_015021	0	0		87967204	1	no_errors	ENST00000369577	ensembl	human	known	74_37	frame_shift_ins	46	202	31.34	25.74	21	70	INS	1.000:1.000	T
ORC3	23595	genome.wustl.edu	37	6	88318838	88318838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:88318838delA	ENST00000392844.3	+	7	652	c.604delA	c.(604-606)aaafs	p.K203fs	ORC3_ENST00000417380.2_Frame_Shift_Del_p.K150fs|ORC3_ENST00000257789.4_Frame_Shift_Del_p.K203fs|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000546266.1_Frame_Shift_Del_p.K60fs	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	203					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AATGCTAAGCAAAAAAAGGAC	0.383																																							0											0													111.0	105.0	107.0					6																	88318838		2203	4300	6503	SO:0001589	frameshift_variant	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.604delA	6.37:g.88318838delA	ENSP00000376586:p.Lys203fs		A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Frame_Shift_Del	DEL	pfam_ORC3	p.R204fs	ENST00000392844.3	37	c.604	CCDS43486.1	6																																																																																			0	pfam_ORC3		0.383	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	protein_coding	OTTHUMT00000041452.2	136	274	0	0.36	0	1	A		0	0		88318838	1	no_errors	ENST00000257789	ensembl	human	known	74_37	frame_shift_del	94	242	28.79	25.99	38	85	DEL	1	0
MANEA	79694	genome.wustl.edu	37	6	96034870	96034871	+	Intron	DEL	TA	TA	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TA	TA	TA	-	TA	TA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:96034870_96034871delTA	ENST00000358812.4	+	2	678				MANEA_ENST00000369293.1_Frame_Shift_Del_p.I186fs	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GTAATTATtgtatatatatata	0.292																																							0											0																																										SO:0001627	intron_variant	0			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.544+11TA>-	6.37:g.96034880_96034881delTA			A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Frame_Shift_Del	DEL	NULL	p.Y189fs	ENST00000358812.4	37	c.555_556	CCDS5032.1	6																																																																																			0	NULL		0.292	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	protein_coding	OTTHUMT00000043644.1	146	191	0	0.52	0	1	TA	NM_024641	0	0		96034871	1	no_errors	ENST00000369293	ensembl	human	known	74_37	frame_shift_del	77	165	21.43	23.26	21	50	DEL	0.026:0.048	0
SEC63	11231	genome.wustl.edu	37	6	108214755	108214756	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:108214755_108214756delTT	ENST00000369002.4	-	16	1783_1784	c.1604_1605delAA	c.(1603-1605)aaafs	p.K535fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	535	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K535fs*28(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGTGTAGGTTTTTTTTTTAA	0.347																																							0											1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1604_1605delAA	6.37:g.108214763_108214764delTT	ENSP00000357998:p.Lys535fs		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Frame_Shift_Del	DEL	pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.K535fs	ENST00000369002.4	37	c.1605_1604	CCDS5061.1	6																																																																																			0	superfamily_ARM-type_fold,smart_Sec63-dom		0.347	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	protein_coding	OTTHUMT00000041705.4	86	130	0	0.00	0	0	TT	NM_007214	0	0		108214756	-1	no_errors	ENST00000369002	ensembl	human	known	74_37	frame_shift_del	58	111	29.27	27.92	24	43	DEL	0.959:1.000	0
AK9	221264	genome.wustl.edu	37	6	109850191	109850191	+	Intron	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:109850191delA	ENST00000424296.2	-	29	3710				AK9_ENST00000341338.6_Intron|AK9_ENST00000355283.1_Frame_Shift_Del_p.F298fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ccctgttttgaaaaaaaaaac	0.443																																							0											0													48.0	46.0	47.0					6																	109850191		2202	4297	6499	SO:0001627	intron_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+22T>-	6.37:g.109850191delA			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	pfam_Adenylate_kin,pfam_YHS_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	p.F298fs	ENST00000424296.2	37	c.893	CCDS55048.1	6																																																																																			0	NULL		0.443	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	protein_coding		105	131	0	0.00	0	0	A	NM_001145128	0	0		109850191	-1	no_errors	ENST00000355283	ensembl	human	novel	74_37	frame_shift_del	56	127	28.21	28.65	22	51	DEL	0.005	0
AKAP7	9465	genome.wustl.edu	37	6	131481276	131481276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:131481276delA	ENST00000431975.2	+	3	327	c.229delA	c.(229-231)aaafs	p.K79fs	AKAP7_ENST00000368123.4_Frame_Shift_Del_p.K57fs|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Frame_Shift_Del_p.K78fs	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	79						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AAAGAAGAGGAAAAAAAAGAG	0.308																																							0											0													51.0	51.0	51.0					6																	131481276		2203	4293	6496	SO:0001589	frameshift_variant	0			AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.229delA	6.37:g.131481276delA	ENSP00000405252:p.Lys79fs		B4DUC3|Q9HCZ8	Frame_Shift_Del	DEL	pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase	p.K57fs	ENST00000431975.2	37	c.163	CCDS5142.2	6																																																																																			0	pfam_Kinase-A_anchor_nucl_local_sig		0.308	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AKAP7	protein_coding	OTTHUMT00000042209.2	95	249	1.04	0.00	1	0	A	NM_004842	0	0		131481276	1	no_errors	ENST00000368123	ensembl	human	known	74_37	frame_shift_del	67	173	22.99	29.10	20	71	DEL	0.449	0
MYB	4602	genome.wustl.edu	37	6	135539912	135539912	+	3'UTR	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:135539912delT	ENST00000367814.4	+	0	2903				MYB_ENST00000525369.1_3'UTR|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000442647.2_3'UTR|MYB_ENST00000341911.5_3'UTR|MYB_ENST00000316528.8_3'UTR	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		tatatatacattttttttCCT	0.318			T	NFIB	adenoid cystic carcinoma																																		0		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.*794T>-	6.37:g.135539912delT			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	RNA	DEL	0	NULL	ENST00000367814.4	37	NULL	CCDS5174.1	6																																																																																			0	0		0.318	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	protein_coding	OTTHUMT00000042347.4	67	237	1.47	0.00	1	0	T		0	0		135539912	1	no_errors	ENST00000531845	ensembl	human	known	74_37	rna	42	210	38.24	21.93	26	59	DEL	0	0
AGPAT4	56895	genome.wustl.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)cggfs	p.R304fs	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627																																							0											3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(2)|ovary(1)											60.0	70.0	66.0					6																	161560589		2203	4300	6503	SO:0001589	frameshift_variant	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.907delC	6.37:g.161560589delG	ENSP00000314036:p.Arg304fs		B4DSF9|Q5TEF0	Frame_Shift_Del	DEL	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R303fs	ENST00000320285.4	37	c.907	CCDS5280.1	6																																																																																			0	NULL		0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	protein_coding	OTTHUMT00000042983.1	73	89	0	1.11	0	1	G	NM_020133	0	0		161560589	-1	no_errors	ENST00000320285	ensembl	human	known	74_37	frame_shift_del	46	68	19.3	32.00	11	32	DEL	0.011	0
PDE10A	10846	genome.wustl.edu	37	6	166401104	166401104	+	5'Flank	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr6:166401104delA	ENST00000535229.1	-	0	0				LINC00473_ENST00000584911.1_lincRNA			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAAGAAAAAGAAAAAAAAAGG	0.488																																					Esophageal Squamous(22;308 615 5753 12038 40624)		0											0																																										SO:0001631	upstream_gene_variant	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986		6.37:g.166401104delA	Exception_encountered		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	RNA	DEL	0	NULL	ENST00000535229.1	37	NULL		6																																																																																			0	0		0.488	PDE10A-004	KNOWN	mRNA_end_NF|basic	processed_transcript	LINC00473	protein_coding	OTTHUMT00000470299.1	39	89	0	0.00	0	0	A		0	0		166401104	-1	no_errors	ENST00000444465	ensembl	human	known	74_37	rna	20	77	33.33	16.30	10	15	DEL	0	0
TOMM7	54543	genome.wustl.edu	37	7	22857031	22857032	+	Intron	DEL	TT	TT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:22857031_22857032delTT	ENST00000358435.4	-	2	224				TOMM7_ENST00000372879.4_Splice_Site_p.KT96fs|TOMM7_ENST00000463284.1_Intron|TOMM7_ENST00000405021.3_Intron	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AATTATTTACtttttttttttt	0.381																																							0											0																																										SO:0001627	intron_variant	0			AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.152+586AA>-	7.37:g.22857041_22857042delTT			O95939	Frame_Shift_Del	DEL	pfam_Tom7	p.K96fs	ENST00000358435.4	37	c.289_288	CCDS5376.1	7																																																																																			0	NULL		0.381	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	protein_coding	OTTHUMT00000211623.1	50	94	0	0.00	0	0	TT	NM_019059	0	0		22857032	-1	no_errors	ENST00000372879	ensembl	human	putative	74_37	frame_shift_del	29	56	25.64	26.32	10	20	DEL	0.100:0.100	0
TRA2A	29896	genome.wustl.edu	37	7	23561888	23561888	+	Intron	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:23561888delA	ENST00000297071.4	-	2	253				TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_Intron|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						AAATAGCCTTAAAAAAATATT	0.299																																					Pancreas(121;2137 2973 46590)		0											0																																										SO:0001627	intron_variant	0			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.37-429T>-	7.37:g.23561888delA			B4DUA9	RNA	DEL	0	NULL	ENST00000297071.4	37	NULL	CCDS5383.1	7																																																																																			0	0		0.299	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	protein_coding	OTTHUMT00000250257.1	108	87	0	0.00	0	0	A	NM_013293	0	0		23561888	-1	no_errors	ENST00000490942	ensembl	human	known	74_37	rna	42	82	40	24.77	28	27	DEL	1	0
HOXA9	3205	genome.wustl.edu	37	7	27202965	27202966	+	3'UTR	INS	-	-	CC	rs200749905	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	CC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:27202965_27202966insCC	ENST00000343483.6	-	0	1147_1148				RP1-170O19.20_ENST00000465941.1_5'Flank|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9						endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CAGCACTAATGCCCCCCCCTCA	0.391			T	"""NUP98, MSI2"""	AML*																																		0		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.*257->GG	7.37:g.27202972_27202973dupCC			O43369|O43429|Q99820	RNA	INS	0	NULL	ENST00000343483.6	37	NULL	CCDS5409.1	7																																																																																			0	0		0.391	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	protein_coding	OTTHUMT00000358706.2	56	221	0	0.00	0	0	0		0	0		27202966	-1	no_errors	ENST00000487384	ensembl	human	known	74_37	rna	19	243	24	21.61	6	67	INS	1.000:0.997	CC
HOXA9	3205	genome.wustl.edu	37	7	27202966	27202966	+	3'UTR	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:27202966delC	ENST00000343483.6	-	0	1147				RP1-170O19.20_ENST00000465941.1_5'Flank|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9						endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AGCACTAATGCCCCCCCCTCA	0.393			T	"""NUP98, MSI2"""	AML*																																		0		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.*256G>-	7.37:g.27202966delC			O43369|O43429|Q99820	RNA	DEL	0	NULL	ENST00000343483.6	37	NULL	CCDS5409.1	7																																																																																			0	0		0.393	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	protein_coding	OTTHUMT00000358706.2	56	221	0	0.00	0	0	C		0	0		27202966	-1	no_errors	ENST00000487384	ensembl	human	known	74_37	rna	15	226	37.5	27.10	9	84	DEL	0.997	0
HOXA10	3206	genome.wustl.edu	37	7	27213495	27213495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:27213495delG	ENST00000283921.4	-	1	430	c.431delC	c.(430-432)ccgfs	p.P145fs	HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'Flank	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	145	Poly-Pro.				anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGGTTgcggcgggggcggcgg	0.706																																							0											0													6.0	7.0	7.0					7																	27213495		2035	4112	6147	SO:0001589	frameshift_variant	0				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.431delC	7.37:g.27213495delG	ENSP00000283921:p.Pro145fs		O43370|O43605|Q15949|Q504T1	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P144fs	ENST00000283921.4	37	c.431	CCDS5410.2	7																																																																																			0	NULL		0.706	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA10	protein_coding	OTTHUMT00000358724.2	18	24	0	0.00	0	0	G		0	0		27213495	-1	no_errors	ENST00000283921	ensembl	human	known	74_37	frame_shift_del	19	21	26.92	25.00	7	7	DEL	0.999	0
NSUN5	55695	genome.wustl.edu	37	7	72718307	72718309	+	In_Frame_Del	DEL	TCC	TCC	-	rs369544582		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TCC	TCC	TCC	-	TCC	TCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:72718307_72718309delTCC	ENST00000252594.6	-	7	867_869	c.852_854delGGA	c.(850-855)gaggac>gac	p.E284del	NSUN5_ENST00000428206.1_In_Frame_Del_p.E246del|NSUN5_ENST00000310326.8_In_Frame_Del_p.E284del|NSUN5_ENST00000438747.2_In_Frame_Del_p.E284del			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	284					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CGCCAGGAAGTCCTCCTCAGCCA	0.611																																							0											0																																										SO:0001651	inframe_deletion	0			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.852_854delGGA	7.37:g.72718310_72718312delTCC	ENSP00000252594:p.Glu284del		B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	In_Frame_Del	DEL	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.E284in_frame_del	ENST00000252594.6	37	c.854_852	CCDS5547.1	7																																																																																			0	pfam_Fmu/NOL1/Nop2p		0.611	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	protein_coding	OTTHUMT00000252113.1	51	60	0	0.00	0	0	TCC	NM_148956	0	0		72718309	-1	no_errors	ENST00000438747	ensembl	human	known	74_37	in_frame_del	39	44	11.36	29.03	5	18	DEL	1.000:1.000:0.852	0
SRRT	51593	genome.wustl.edu	37	7	100479358	100479358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100479358delC	ENST00000347433.4	+	4	488	c.330delC	c.(328-330)ggcfs	p.G110fs	SRRT_ENST00000457580.2_Frame_Shift_Del_p.G110fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.G110fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G110fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	110					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAACTTATGGCCCCCCTCAGC	0.612																																							0											0													34.0	36.0	35.0					7																	100479358		2201	4296	6497	SO:0001589	frameshift_variant	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.330delC	7.37:g.100479358delC	ENSP00000314491:p.Gly110fs		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	pfam_Arsenite-R_2,pfam_DUF3546	p.P112fs	ENST00000347433.4	37	c.330	CCDS34709.1	7																																																																																			0	NULL		0.612	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	protein_coding	OTTHUMT00000347168.1	14	25	0	0.00	0	0	C	NM_015908	0	0		100479358	1	no_errors	ENST00000388793	ensembl	human	known	74_37	frame_shift_del	14	22	36.36	29.03	8	9	DEL	1	0
TRIM56	81844	genome.wustl.edu	37	7	100731858	100731858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:100731858delA	ENST00000306085.6	+	3	1562	c.1265delA	c.(1264-1266)gaafs	p.E422fs		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	422					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAAAGAGGAAAAAGCCCAG	0.647																																					Ovarian(89;1092 1379 22756 38989 39611)		0											0																																										SO:0001589	frameshift_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1265delA	7.37:g.100731858delA	ENSP00000305161:p.Glu422fs		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Frame_Shift_Del	DEL	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A424fs	ENST00000306085.6	37	c.1265	CCDS43625.1	7																																																																																			0	NULL		0.647	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	protein_coding	OTTHUMT00000347185.1	55	136	0	0.00	0	0	A	NM_030961	0	0		100731858	1	no_errors	ENST00000306085	ensembl	human	known	74_37	frame_shift_del	36	114	10	33.72	4	58	DEL	0.002	0
DOCK4	9732	genome.wustl.edu	37	7	111405191	111405192	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:111405191_111405192insT	ENST00000437633.1	-	38	4231_4232	c.3975_3976insA	c.(3973-3978)aaatttfs	p.F1326fs	DOCK4_ENST00000494651.2_Frame_Shift_Ins_p.F209fs|DOCK4_ENST00000428084.1_Frame_Shift_Ins_p.F1335fs	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1326	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAAAATGGAAATTTTTTTCCAT	0.322																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3976dupA	7.37:g.111405198_111405198dupT	ENSP00000404179:p.Phe1326fs		O14584|O94824|Q8NB45	Frame_Shift_Ins	INS	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.F1334fs	ENST00000437633.1	37	c.4003_4002	CCDS47688.1	7																																																																																			0	NULL		0.322	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	protein_coding	OTTHUMT00000338369.4	154	140	0	0.00	0	0	0	NM_014705	0	0		111405192	-1	no_errors	ENST00000428084	ensembl	human	known	74_37	frame_shift_ins	84	133	28.21	20.36	33	34	INS	1.000:0.955	T
WNT16	51384	genome.wustl.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:120971879delG	ENST00000222462.2	+	3	784	c.494delG	c.(493-495)tggfs	p.W165fs	WNT16_ENST00000361301.2_Frame_Shift_Del_p.W155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGCTGGCACTGGGGGGGCTGC	0.532																																							0											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|large_intestine(1)											57.0	58.0	58.0					7																	120971879		2203	4300	6503	SO:0001589	frameshift_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.494delG	7.37:g.120971879delG	ENSP00000222462:p.Trp165fs		Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.G167fs	ENST00000222462.2	37	c.494	CCDS5781.1	7																																																																																			0	pfam_Wnt,smart_Wnt,prints_Wnt		0.532	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	protein_coding	OTTHUMT00000346843.1	48	129	0	0.77	0	1	G	NM_057168	0	0		120971879	1	no_errors	ENST00000222462	ensembl	human	known	74_37	frame_shift_del	19	142	26.92	26.80	7	52	DEL	1	0
IRF5	3663	genome.wustl.edu	37	7	128588315	128588317	+	In_Frame_Del	DEL	TCT	TCT	-	rs576256045	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TCT	TCT	TCT	-	TCT	TCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:128588315_128588317delTCT	ENST00000402030.2	+	8	1256_1258	c.1184_1186delTCT	c.(1183-1188)atcttc>atc	p.F397del	IRF5_ENST00000473745.1_In_Frame_Del_p.F397del|IRF5_ENST00000477535.1_In_Frame_Del_p.F311del|IRF5_ENST00000249375.4_In_Frame_Del_p.F397del|IRF5_ENST00000357234.5_In_Frame_Del_p.F413del	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	397					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCTTCGAGATCTTCTTCTGCTT	0.537																																							0											0																																										SO:0001651	inframe_deletion	0				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1184_1186delTCT	7.37:g.128588321_128588323delTCT	ENSP00000385352:p.Phe397del		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	In_Frame_Del	DEL	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.F413in_frame_del	ENST00000402030.2	37	c.1232_1234	CCDS5808.1	7																																																																																			0	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.537	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	34	216	0	0.00	0	0	TCT	NM_001098627	0	0		128588317	1	no_errors	ENST00000357234	ensembl	human	known	74_37	in_frame_del	32	182	17.95	25.41	7	62	DEL	1.000:0.999:1.000	0
NDUFB2	4708	genome.wustl.edu	37	7	140395526	140395526	+	5'Flank	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:140395526delG	ENST00000476279.1	+	0	0				NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000204307.5_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000465506.1_5'Flank			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					TCAGCCTGGAGGGGGGGTATT	0.498																																							0											0																																										SO:0001631	upstream_gene_variant	0			AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424		7.37:g.140395526delG	Exception_encountered		Q6FGI6	RNA	DEL	0	NULL	ENST00000476279.1	37	NULL	CCDS5862.1	7																																																																																			0	0		0.498	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NDUFB2-AS1	protein_coding	OTTHUMT00000348784.1	57	49	0	0.00	0	0	G	NM_004546	0	0		140395526	-1	no_errors	ENST00000465466	ensembl	human	known	74_37	rna	42	60	30	16.67	18	12	DEL	0.023	0
ZNF425	155054	genome.wustl.edu	37	7	148809437	148809437	+	Intron	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:148809437delT	ENST00000378061.2	-	3	278				ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACttaaataatttttttggcc	0.483																																							0											0													69.0	72.0	71.0					7																	148809437		2203	4298	6501	SO:0001627	intron_variant	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.146-50A>-	7.37:g.148809437delT			B3KPM1|Q08AG3	RNA	DEL	0	NULL	ENST00000378061.2	37	NULL	CCDS34773.1	7																																																																																			0	0		0.483	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	protein_coding	OTTHUMT00000352726.1	36	80	0	0.00	0	0	T	XM_088140	0	0		148809437	-1	no_errors	ENST00000484196	ensembl	human	known	74_37	rna	28	81	28.21	19.80	11	20	DEL	0.013	0
SLC4A2	6522	genome.wustl.edu	37	7	150773332	150773332	+	Intron	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:150773332delC	ENST00000485713.1	+	23	4685				FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Intron|SLC4A2_ENST00000461735.1_Intron|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Intron|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2						anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGGAAAGGCCCCCCCACTT	0.602																																							0											0													54.0	55.0	54.0					7																	150773332		2203	4300	6503	SO:0001627	intron_variant	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3646-42C>-	7.37:g.150773332delC			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	RNA	DEL	0	NULL	ENST00000485713.1	37	NULL	CCDS5917.1	7																																																																																			0	0		0.602	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000244151	protein_coding	OTTHUMT00000351039.1	65	204	1.52	0.00	1	0	C	NM_003040	0	0		150773332	-1	no_errors	ENST00000485974	ensembl	human	known	74_37	rna	46	109	23.33	31.87	14	51	DEL	0	0
KMT2C	58508	genome.wustl.edu	37	7	151874148	151874148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:151874148delT	ENST00000262189.6	-	38	8608	c.8390delA	c.(8389-8391)aagfs	p.K2797fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K2797fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2797				K -> R (in Ref. 1; AAK00583). {ECO:0000305}.	histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K2797fs*26(20)									TTCTTGTTCCTTTTTTTTTGG	0.348																																							0											20	Deletion - Frameshift(20)	large_intestine(18)|liver(2)											135.0	130.0	132.0					7																	151874148		2203	4300	6503	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8390delA	7.37:g.151874148delT	ENSP00000262189:p.Lys2797fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K2797fs	ENST00000262189.6	37	c.8390	CCDS5931.1	7																																																																																			0	NULL		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	protein_coding	OTTHUMT00000318887.3	89	281	1.11	0.71	1	2	T		0	0		151874148	-1	no_errors	ENST00000355193	ensembl	human	known	74_37	frame_shift_del	44	237	33.33	27.74	22	91	DEL	0.019	0
RP1L1	94137	genome.wustl.edu	37	8	10467550	10467552	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TCT	TCT	TCT	-	TCT	TCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:10467550_10467552delTCT	ENST00000382483.3	-	4	4279_4281	c.4056_4058delAGA	c.(4054-4059)gaagag>gag	p.1352_1353EE>E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1382	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		taactgcgcctcttcttcttgct	0.483																																							0											0																																										SO:0001651	inframe_deletion	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4056_4058delAGA	8.37:g.10467556_10467558delTCT	ENSP00000371923:p.Glu1353del		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1353in_frame_del	ENST00000382483.3	37	c.4058_4056	CCDS43708.1	8																																																																																			0	NULL		0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	86	191	0	0.00	0	0	TCT		0	0		10467552	-1	no_errors	ENST00000382483	ensembl	human	known	74_37	in_frame_del	55	216	16.67	18.49	11	49	DEL	0.000:0.000:0.000	0
SLC7A2	6542	genome.wustl.edu	37	8	17402081	17402081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:17402081delT	ENST00000494857.1	+	4	716	c.498delT	c.(496-498)gatfs	p.D166fs	SLC7A2_ENST00000470360.1_Frame_Shift_Del_p.D206fs|SLC7A2_ENST00000398090.3_Frame_Shift_Del_p.D206fs|SLC7A2_ENST00000522656.1_Frame_Shift_Del_p.D166fs|SLC7A2_ENST00000004531.10_Frame_Shift_Del_p.D206fs	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	166					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AATATCCCGATTTTTTTGCTG	0.398																																							0											0													106.0	103.0	104.0					8																	17402081		2203	4300	6503	SO:0001589	frameshift_variant	0			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.498delT	8.37:g.17402081delT	ENSP00000419140:p.Asp166fs		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Frame_Shift_Del	DEL	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.F208fs	ENST00000494857.1	37	c.618	CCDS34852.1	8																																																																																			0	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease		0.398	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	protein_coding	OTTHUMT00000253367.3	105	211	0	0.00	0	0	T	NM_003046	0	0		17402081	1	no_errors	ENST00000004531	ensembl	human	known	74_37	frame_shift_del	76	188	18.28	23.27	17	57	DEL	0.996	0
PSD3	23362	genome.wustl.edu	37	8	18413785	18413785	+	Frame_Shift_Del	DEL	G	G	-	rs28651847	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:18413785delG	ENST00000327040.8	-	15	2964	c.2862delC	c.(2860-2862)cccfs	p.P954fs	PSD3_ENST00000523619.1_Frame_Shift_Del_p.P889fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.P283fs|PSD3_ENST00000286485.8_Frame_Shift_Del_p.P420fs|PSD3_ENST00000440756.2_Frame_Shift_Del_p.P956fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	955					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCTTCTTGTCGGGGGGATATG	0.483																																							0											0													202.0	197.0	199.0					8																	18413785		2203	4300	6503	SO:0001589	frameshift_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2862delC	8.37:g.18413785delG	ENSP00000324127:p.Pro954fs		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Del	DEL	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.D957fs	ENST00000327040.8	37	c.2868	CCDS43720.1	8																																																																																			0	NULL		0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	protein_coding	OTTHUMT00000374867.1	65	186	0	0.00	0	0	G	NM_015310	0	0		18413785	-1	no_errors	ENST00000440756	ensembl	human	known	74_37	frame_shift_del	33	166	28.26	28.14	13	65	DEL	0	0
DOCK5	80005	genome.wustl.edu	37	8	25257429	25257429	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:25257429delT	ENST00000276440.7	+	46	4751	c.4707delT	c.(4705-4707)gctfs	p.A1569fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1569	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTTTTAGGCTTTTTTTACAG	0.433																																					Pancreas(145;34 1887 3271 10937 30165)		0											0													71.0	67.0	68.0					8																	25257429		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4707delT	8.37:g.25257429delT	ENSP00000276440:p.Ala1569fs		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.F1571fs	ENST00000276440.7	37	c.4707	CCDS6047.1	8																																																																																			0	pfam_DOCK_C		0.433	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	protein_coding	OTTHUMT00000254955.2	37	224	0	0.00	0	0	T	NM_024940	0	0		25257429	1	no_errors	ENST00000276440	ensembl	human	known	74_37	frame_shift_del	26	175	29.73	23.58	11	54	DEL	0.166	0
INTS9	55756	genome.wustl.edu	37	8	28645389	28645392	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TGTT	TGTT	TGTT	-	TGTT	TGTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:28645389_28645392delTGTT	ENST00000521022.1	-	11	1133_1136	c.1052_1055delAACA	c.(1051-1056)aaacagfs	p.KQ351fs	INTS9_ENST00000521777.1_Frame_Shift_Del_p.KQ327fs|INTS9_ENST00000416984.2_Frame_Shift_Del_p.KQ330fs|INTS9_ENST00000397363.4_Frame_Shift_Del_p.KQ245fs	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	351					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CACCTTACTCTGTTTGTTGTGACA	0.436																																							0											0																																										SO:0001589	frameshift_variant	0			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1052_1055delAACA	8.37:g.28645393_28645396delTGTT	ENSP00000429065:p.Lys351fs		B7Z560|B7Z6M5|O00224|Q8TB16	Frame_Shift_Del	DEL	pfam_Beta_Casp	p.K351fs	ENST00000521022.1	37	c.1055_1052	CCDS34873.1	8																																																																																			0	pfam_Beta_Casp		0.436	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	protein_coding	OTTHUMT00000376846.1	45	210	0	0.00	0	0	TGTT	NM_018250	0	0		28645392	-1	no_errors	ENST00000521022	ensembl	human	known	74_37	frame_shift_del	35	200	14.63	22.48	6	58	DEL	1.000:1.000:0.993:1.000	0
ERLIN2	11160	genome.wustl.edu	37	8	37611633	37611633	+	Stop_Codon_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:37611633delA	ENST00000276461.5	+	0	1087				ERLIN2_ENST00000519638.1_Stop_Codon_Del	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGAGAATTGAAAAAAACTTG	0.438																																							0											0													57.0	57.0	57.0					8																	37611633		2203	4300	6503	SO:0001567	stop_retained_variant	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	Exception_encountered	8.37:g.37611633delA			A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Del	DEL	pfam_Band_7,smart_Band_7	p.*340fs	ENST00000276461.5	37	c.1020	CCDS6095.1	8																																																																																			0	NULL		0.438	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	protein_coding	OTTHUMT00000376712.2	51	196	0	0.00	0	0	A	NM_007175	0	0		37611633	1	no_errors	ENST00000276461	ensembl	human	known	74_37	frame_shift_del	28	193	30	24.90	12	64	DEL	0.656	0
CLVS1	157807	genome.wustl.edu	37	8	62412295	62412296	+	3'UTR	DEL	TT	TT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:62412295_62412296delTT	ENST00000519846.1	+	0	1731_1732				CLVS1_ENST00000518592.1_3'UTR|CLVS1_ENST00000518858.1_3'UTR|CLVS1_ENST00000325897.4_3'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGAGAGATGCTTTTTTTTTCCC	0.436																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.*195TT>-	8.37:g.62412301_62412302delTT			B2R7M5|C8UZT3|Q8NB32	RNA	DEL	0	NULL	ENST00000519846.1	37	NULL	CCDS6176.1	8																																																																																			0	0		0.436	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	protein_coding	OTTHUMT00000378323.1	53	140	0	0.00	0	0	TT	NM_173519	0	0		62412296	1	no_errors	ENST00000518858	ensembl	human	known	74_37	rna	32	181	28.89	25.51	13	62	DEL	0.005:0.005	0
PEX2	5828	genome.wustl.edu	37	8	77912372	77912373	+	5'UTR	DEL	AA	AA	-	rs545258753	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:77912372_77912373delAA	ENST00000357039.4	-	0	89_90				PEX2_ENST00000419564.2_Intron|PEX2_ENST00000520103.1_Intron|PEX2_ENST00000520203.1_5'UTR|PEX2_ENST00000522527.1_5'UTR	NM_000318.2|NM_001079867.1|NM_001172087.1	NP_000309|NP_001073336.1|NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2						bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GAAGTGGCTGAAAAAAAAAAGA	0.535																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000357039.4:c.-307TT>-	8.37:g.77912380_77912381delAA			Q567S6|Q9BW41	RNA	DEL	0	NULL	ENST00000357039.4	37	NULL	CCDS6221.1	8																																																																																			0	0		0.535	PEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	protein_coding	OTTHUMT00000379122.1	37	36	0	0.00	0	0	AA	NM_000318	0	0		77912373	-1	no_errors	ENST00000520203	ensembl	human	known	74_37	rna	14	42	33.33	22.22	7	12	DEL	0.004:0.003	0
SLC26A7	115111	genome.wustl.edu	37	8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:92352747delA	ENST00000276609.3	+	8	1233	c.994delA	c.(994-996)aaafs	p.K333fs	SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.K333fs|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.K333fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.K333fs*20(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGGATCTGCCAAAAAATTCAA	0.502																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											97.0	90.0	92.0					8																	92352747		2203	4300	6503	SO:0001589	frameshift_variant	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.994delA	8.37:g.92352747delA	ENSP00000276609:p.Lys333fs			Frame_Shift_Del	DEL	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K333fs	ENST00000276609.3	37	c.994	CCDS6254.1	8																																																																																			0	pfam_Sulph_transpt		0.502	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	protein_coding	OTTHUMT00000377011.1	43	162	0	0.00	0	0	A		0	0		92352747	1	no_errors	ENST00000309536	ensembl	human	known	74_37	frame_shift_del	30	157	23.08	26.98	9	58	DEL	1	0
RAD54B	25788	genome.wustl.edu	37	8	95390551	95390552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:95390551_95390552insC	ENST00000336148.5	-	14	2495_2496	c.2371_2372insG	c.(2371-2373)gcafs	p.A791fs		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	791	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTCGACAACTGCCCCACAAAGA	0.337								Direct reversal of damage;Homologous recombination																															0											0																																										SO:0001589	frameshift_variant	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2372dupG	8.37:g.95390555_95390555dupC	ENSP00000336606:p.Ala791fs		F6WBS8	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A791fs	ENST00000336148.5	37	c.2372_2371	CCDS6262.1	8																																																																																			0	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C		0.337	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	protein_coding	OTTHUMT00000257806.3	35	249	0	0.00	0	0	0	NM_012415	0	0		95390552	-1	no_errors	ENST00000336148	ensembl	human	known	74_37	frame_shift_ins	39	187	18.75	32.00	9	88	INS	1.000:1.000	C
DCAF13	25879	genome.wustl.edu	37	8	104439487	104439487	+	Frame_Shift_Del	DEL	T	T	-	rs566617241		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:104439487delT	ENST00000521971.1	+	4	591	c.511delT	c.(511-513)tttfs	p.F173fs	DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Frame_Shift_Del_p.F209fs			Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TGAGGTAATGTTTTTTTTTAA	0.279																																							0											0										19,19,4226		0,0,19,0,19,2094	57.0	56.0	57.0			-2.1	0.0	8		59	6,61,8187		0,0,6,0,61,4060	no	intron	DCAF13	NM_015420.6		0,0,25,0,80,6154	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8117,0.8912,0.8388			104439487	25,80,12413	2203	4300	6503	SO:0001589	frameshift_variant	0			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000521971.1:c.511delT	8.37:g.104439487delT	ENSP00000430883:p.Phe173fs		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F209fs	ENST00000521971.1	37	c.619		8																																																																																			0	NULL		0.279	DCAF13-003	NOVEL	basic	protein_coding	DCAF13	protein_coding	OTTHUMT00000380799.2	83	219	0	0.45	0	1	T	NM_015420	rs566617241	GT->G		104439487	1	no_errors	ENST00000519682	ensembl	human	putative	74_37	frame_shift_del	46	188	36.99	21.34	27	51	DEL	0.001	0
DPYS	1807	genome.wustl.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																							0											0													179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs			Frame_Shift_Del	DEL	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G363fs	ENST00000351513.2	37	c.1086	CCDS6302.1	8																																																																																			0	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	protein_coding	OTTHUMT00000380814.1	96	216	1.03	0.92	1	2	T	NM_001385	0	0		105440214	-1	no_errors	ENST00000351513	ensembl	human	known	74_37	frame_shift_del	53	202	28.38	29.37	21	84	DEL	1	0
VCP	7415	genome.wustl.edu	37	9	35059647	35059647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:35059647delT	ENST00000358901.6	-	14	2742	c.1847delA	c.(1846-1848)aatfs	p.N616fs		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	616					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.N616fs*63(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)			GATGAACACATTTTTTTTTGT	0.512																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											206.0	164.0	179.0					9																	35059647		2203	4300	6503	SO:0001589	frameshift_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.1847delA	9.37:g.35059647delT	ENSP00000351777:p.Asn616fs		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Frame_Shift_Del	DEL	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_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.N616fs	ENST00000358901.6	37	c.1847	CCDS6573.1	9																																																																																			0	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48		0.512	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	protein_coding	OTTHUMT00000052290.1	29	160	0	0.00	0	0	T	NM_007126	0	0		35059647	-1	no_errors	ENST00000358901	ensembl	human	known	74_37	frame_shift_del	26	117	27.78	25.95	10	41	DEL	1	0
KIF27	55582	genome.wustl.edu	37	9	86482789	86482789	+	Intron	DEL	A	A	-	rs551732596	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:86482789delA	ENST00000297814.2	-	13	2901				KIF27_ENST00000413982.1_Intron|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27						ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATTAAAATTAAAAAAAAAGT	0.299																																							0											0										14,10,4236		0,0,14,1,8,2107	32.0	35.0	34.0			2.0	0.5	9		35	8,17,8221		0,0,8,0,17,4098	no	intron	KIF27	NM_017576.1		0,0,22,1,25,6205	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3032,0.5634,0.3918			86482789	22,27,12457	2203	4299	6502	SO:0001627	intron_variant	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2758-14T>-	9.37:g.86482789delA			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	RNA	DEL	0	NULL	ENST00000297814.2	37	NULL	CCDS6665.1	9																																																																																			0	0		0.299	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927552	protein_coding	OTTHUMT00000052861.1	63	143	0	0.69	0	1	A	NM_017576	0	0		86482789	1	no_errors	ENST00000421734	ensembl	human	known	74_37	rna	42	143	27.59	29.56	16	60	DEL	0.04	0
IARS	3376	genome.wustl.edu	37	9	95049772	95049773	+	Intron	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:95049772_95049773insA	ENST00000375643.3	-	4	663				IARS_ENST00000375629.3_Intron|IARS_ENST00000447699.2_Intron|IARS_ENST00000443024.2_Intron	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	aatgaaaagttaaaaaaATTGA	0.282																																							0											0																																										SO:0001627	intron_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.396+299->T	9.37:g.95049779_95049779dupA			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	RNA	INS	0	NULL	ENST00000375643.3	37	NULL	CCDS6694.1	9																																																																																			0	0		0.282	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	protein_coding	OTTHUMT00000053059.2	118	144	0.84	0.00	1	0	0	NM_002161	0	0		95049773	-1	no_errors	ENST00000490438	ensembl	human	known	74_37	rna	64	139	21.95	17.26	18	29	INS	0.573:0.411	A
TOPORSLP1	347281	genome.wustl.edu	37	9	107038701	107038701	+	RNA	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:107038701delA	ENST00000493279.1	+	0	1465																											ACTGAATTGCAAAAAAAAGTT	0.428																																							0											0																																												0																															9.37:g.107038701delA				RNA	DEL	0	NULL	ENST00000493279.1	37	NULL		9																																																																																			0	0		0.428	RP11-86L19.2-002	KNOWN	basic	processed_transcript	ENSG00000242111	pseudogene	OTTHUMT00000337446.1	24	141	0	0.00	0	0	A		0	0		107038701	1	no_errors	ENST00000493279	ensembl	human	known	74_37	rna	8	109	33.33	25.34	4	37	DEL	0.001	0
FAM206A	54942	genome.wustl.edu	37	9	111696742	111696742	+	5'UTR	DEL	G	G	-	rs374390367		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:111696742delG	ENST00000322940.6	+	0	282				IKBKAP_ENST00000537196.1_5'Flank|FAM206A_ENST00000374624.3_5'Flank|IKBKAP_ENST00000374647.5_5'Flank|FAM206A_ENST00000466200.1_3'UTR	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A							nucleus (GO:0005634)											CCCGGAGGGCGGGGGTGGCGG	0.721																																							0											0													14.0	14.0	14.0					9																	111696742		2186	4274	6460	SO:0001623	5_prime_UTR_variant	0			BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.-25G>-	9.37:g.111696742delG			Q5JTR0|Q5JTR1	RNA	DEL	0	NULL	ENST00000322940.6	37	NULL	CCDS6774.1	9																																																																																			0	0		0.721	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	protein_coding	OTTHUMT00000053582.1	46	11	0	0.00	0	0	G	NM_017832	rs374390367	CG->C		111696742	1	no_errors	ENST00000466200	ensembl	human	known	74_37	rna	28	12	40.43	29.41	19	5	DEL	0.001	0
OR2K2	26248	genome.wustl.edu	37	9	114089908	114089909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:114089908_114089909insT	ENST00000374428.1	-	1	891_892	c.892_893insA	c.(892-894)atafs	p.I298fs	OR2K2_ENST00000302681.1_Frame_Shift_Ins_p.I269fs			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATTTTGTCTATTTTTTGTGCA	0.396																																							0											0																																										SO:0001589	frameshift_variant	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.893dupA	9.37:g.114089914_114089914dupT	ENSP00000363550:p.Ile298fs		Q2TA61|Q5VYK4|Q6IFI5	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I298fs	ENST00000374428.1	37	c.893_892		9																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.396	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	protein_coding		91	213	0	0.00	0	0	0	NM_205859	0	0		114089909	-1	no_errors	ENST00000374428	ensembl	human	known	74_37	frame_shift_ins	62	233	32.61	22.33	30	67	INS	0.052:0.001	T
FAM78A	286336	genome.wustl.edu	37	9	134133531	134133531	+	3'UTR	DEL	G	G	-	rs185686983	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:134133531delG	ENST00000372271.3	-	0	3897				FAM78A_ENST00000372269.3_3'UTR|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A											NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		AAAAAAAAAAGGTTCATTGTA	0.363																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.*2678C>-	9.37:g.134133531delG			Q86VQ9|Q9H7P4	RNA	DEL	0	NULL	ENST00000372271.3	37	NULL	CCDS6941.2	9																																																																																			0	0		0.363	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	protein_coding	OTTHUMT00000054720.1	32	161	0	0.00	0	0	G	NM_033387	0	0		134133531	-1	no_errors	ENST00000247295	ensembl	human	known	74_37	rna	14	142	36.36	19.32	8	34	DEL	0.003	0
NOTCH1	4851	genome.wustl.edu	37	9	139407932	139407934	+	In_Frame_Del	DEL	ATT	ATT	-	rs2229971|rs587778559|rs376424722	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	ATT	ATT	ATT	-	ATT	ATT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139407932_139407934delATT	ENST00000277541.6	-	14	2338_2340	c.2263_2265delAAT	c.(2263-2265)aatdel	p.N755del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	755	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATTCACACTCATTGTTGTTGATG	0.601			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													0		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001651	inframe_deletion	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2263_2265delAAT	9.37:g.139407932_139407934delATT	ENSP00000277541:p.Asn755del		Q59ED8|Q5SXM3	In_Frame_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.N755in_frame_del	ENST00000277541.6	37	c.2265_2263	CCDS43905.1	9																																																																																			0	smart_EGF-like_Ca-bd_dom,pirsf_Notch,pfscan_EG-like_dom		0.601	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	11	205	0	0.00	0	0	ATT	NM_017617	rs587778559	CATT->C		139407934	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	in_frame_del	5	139	44.44	28.35	4	55	DEL	0.954:0.999:1.000	0
CCDC183	84960	genome.wustl.edu	37	9	139699024	139699026	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:139699024_139699026delAGA	ENST00000338005.6	+	7	772_774	c.737_739delAGA	c.(736-741)cagaag>cag	p.K248del	RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		248										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTCAACCAGCAGAAGAAGCTGAT	0.635																																							0											0																																										SO:0001651	inframe_deletion	0																														ENST00000338005.6:c.737_739delAGA	9.37:g.139699027_139699029delAGA	ENSP00000338013:p.Lys248del		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	In_Frame_Del	DEL	NULL	p.K248in_frame_del	ENST00000338005.6	37	c.737_739	CCDS43906.1	9																																																																																			0	NULL		0.635	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	protein_coding	OTTHUMT00000354899.1	30	75	0	0.00	0	0	AGA		0	0		139699026	1	no_errors	ENST00000338005	ensembl	human	known	74_37	in_frame_del	15	60	34.78	25.93	8	21	DEL	1.000:1.000:1.000	0
C10orf126	283080	genome.wustl.edu	37	10	29169288	29169288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:29169288delA	ENST00000375520.1	+	5	610	c.432delA	c.(430-432)gcafs	p.A144fs		NM_001278522.1	NP_001265451.1	Q8N4M7	CJ126_HUMAN	chromosome 10 open reading frame 126	144										haematopoietic_and_lymphoid_tissue(1)	1						GCAAAGAGGCAAAAAAAGCAG	0.488																																							0											0																																										SO:0001589	frameshift_variant	0			BC033839	CCDS60510.1	10p12.1	2014-08-13			ENSG00000204365	ENSG00000204365			28693	protein-coding gene	gene with protein product						12477932	Standard	NM_001278522		Approved	MGC45541, bA492M23.1		Q8N4M7	OTTHUMG00000017878	ENST00000375520.1:c.432delA	10.37:g.29169288delA	ENSP00000364670:p.Ala144fs		Q5T2Z8	Frame_Shift_Del	DEL	NULL	p.A147fs	ENST00000375520.1	37	c.432		10																																																																																			0	NULL		0.488	C10orf126-001	KNOWN	basic|appris_principal	protein_coding	C10orf126	protein_coding	OTTHUMT00000047379.1	80	251	0	0.79	0	2	A		0	0		29169288	1	no_errors	ENST00000375520	ensembl	human	known	74_37	frame_shift_del	40	207	43.66	27.11	31	77	DEL	0	0
ZSWIM8	23053	genome.wustl.edu	37	10	75560546	75560547	+	Intron	DEL	CC	CC	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CC	CC	CC	-	CC	CC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:75560546_75560547delCC	ENST00000605216.1	+	24	5348				RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000398706.2_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8								zinc ion binding (GO:0008270)										AGGACCATTGCCCCCCCCCCAC	0.614																																							0											0																																										SO:0001627	intron_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5131+29CC>-	10.37:g.75560554_75560555delCC			B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	RNA	DEL	0	NULL	ENST00000605216.1	37	NULL		10																																																																																			0	0		0.614	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	protein_coding	OTTHUMT00000468545.1	74	151	0	0.00	0	0	CC	NM_001242487	0	0		75560547	1	no_errors	ENST00000603195	ensembl	human	known	74_37	rna	55	131	32.93	27.22	27	49	DEL	0.749:0.797	0
ZDHHC16	84287	genome.wustl.edu	37	10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-	rs146287872	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AAG	AAG	AAG	-	AAG	AAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:99215505_99215507delAAG	ENST00000370854.3	+	9	1102_1104	c.913_915delAAG	c.(913-915)aagdel	p.K306del	ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del|ZDHHC16_ENST00000393760.1_In_Frame_Del_p.K306del|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCACATCAACAAGAAGGAGAGAC	0.532																																							0											0									,,,,	1,4261		0,1,2130					,,,,	6.1	1.0			147	0,8254		0,0,4127	no	coding,coding,coding,coding,coding	ZDHHC16	NM_198046.1,NM_198045.1,NM_198044.1,NM_198043.1,NM_032327.2	,,,,	0,1,6257	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,,	,,,,		1,12515				SO:0001651	inframe_deletion	0			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.913_915delAAG	10.37:g.99215508_99215510delAAG	ENSP00000359891:p.Lys306del		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	In_Frame_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K306in_frame_del	ENST00000370854.3	37	c.913_915	CCDS7460.1	10																																																																																			0	NULL		0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	protein_coding	OTTHUMT00000049658.2	45	119	0	0.00	0	0	AAG	NM_032327	0	0		99215507	1	no_errors	ENST00000370854	ensembl	human	known	74_37	in_frame_del	20	99	31.03	18.85	9	23	DEL	1.000:0.988:0.995	0
FAM178A	55719	genome.wustl.edu	37	10	102690753	102690753	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:102690753delT	ENST00000238961.4	+	9	2896	c.2354delT	c.(2353-2355)attfs	p.I785fs	FAM178A_ENST00000370269.3_Frame_Shift_Del_p.I785fs	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	785						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											ACAGATCAGATTTTTTTGACA	0.378																																							0											0													186.0	176.0	179.0					10																	102690753		2203	4300	6503	SO:0001589	frameshift_variant	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2354delT	10.37:g.102690753delT	ENSP00000238961:p.Ile785fs		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Frame_Shift_Del	DEL	NULL	p.L787fs	ENST00000238961.4	37	c.2354	CCDS7500.1	10																																																																																			0	NULL		0.378	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	protein_coding	OTTHUMT00000049897.3	93	286	0	0.00	0	0	T		0	0		102690753	1	no_errors	ENST00000370269	ensembl	human	known	74_37	frame_shift_del	57	232	26.92	31.76	21	108	DEL	1	0
PDZD7	79955	genome.wustl.edu	37	10	102789810	102789811	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:102789810_102789811insG	ENST00000370215.3	-	2	391_392	c.166_167insC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000393459.1_5'Flank|SFXN3_ENST00000224807.5_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Ins_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCGGATTCCGCGGGGGGGCCCG	0.663																																							0											1	Substitution - Missense(1)	breast(1)																																								SO:0001589	frameshift_variant	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.167dupC	10.37:g.102789817_102789817dupG	ENSP00000359234:p.Arg56fs		D5FJ77|Q8N321	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R56fs	ENST00000370215.3	37	c.167_166	CCDS31269.1	10																																																																																			0	superfamily_PDZ		0.663	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	protein_coding	OTTHUMT00000049883.1	153	113	0	0.00	0	0	0	NM_024895	0	0		102789811	-1	no_errors	ENST00000370215	ensembl	human	known	74_37	frame_shift_ins	82	125	24.07	14.97	26	22	INS	0.996:0.998	G
COL17A1	1308	genome.wustl.edu	37	10	105819448	105819448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:105819448delT	ENST00000353479.5	-	15	1460	c.1170delA	c.(1168-1170)aaafs	p.K390fs	COL17A1_ENST00000369733.3_Frame_Shift_Del_p.K390fs|COL17A1_ENST00000393211.3_Frame_Shift_Del_p.K390fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	390	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTGCTTTTCTTTTTTTAGGG	0.443																																							0											0													175.0	162.0	166.0					10																	105819448		2203	4300	6503	SO:0001589	frameshift_variant	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1170delA	10.37:g.105819448delT	ENSP00000340937:p.Lys390fs		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Del	DEL	pfam_Collagen	p.E391fs	ENST00000353479.5	37	c.1170	CCDS7554.1	10																																																																																			0	NULL		0.443	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	protein_coding	OTTHUMT00000050181.1	90	226	0	0.00	0	0	T	NM_130778, NM_000494	0	0		105819448	-1	no_errors	ENST00000353479	ensembl	human	known	74_37	frame_shift_del	50	222	29.58	26.97	21	82	DEL	0.999	0
XPNPEP1	7511	genome.wustl.edu	37	10	111630571	111630572	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:111630571_111630572insA	ENST00000502935.1	-	18	1732_1733	c.1613_1614insT	c.(1612-1614)ttgfs	p.L538fs	XPNPEP1_ENST00000369680.4_Frame_Shift_Ins_p.L495fs|XPNPEP1_ENST00000369683.1_Frame_Shift_Ins_p.L424fs|XPNPEP1_ENST00000322238.8_Frame_Shift_Ins_p.L514fs|U4_ENST00000607255.1_RNA					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CATGGACATTCAAAAAAGACCC	0.48																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1614dupT	10.37:g.111630577_111630577dupA	ENSP00000421566:p.Leu538fs			Frame_Shift_Ins	INS	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.L538fs	ENST00000502935.1	37	c.1614_1613	CCDS7560.2	10																																																																																			0	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain		0.480	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	protein_coding	OTTHUMT00000050264.2	39	155	0	0.00	0	0	0		0	0		111630572	-1	no_errors	ENST00000502935	ensembl	human	known	74_37	frame_shift_ins	24	178	20	23.93	6	56	INS	1.000:1.000	A
ADD3	120	genome.wustl.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																							0											0													51.0	59.0	56.0					10																	111893350		2198	4295	6493	SO:0001589	frameshift_variant	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.K701fs	ENST00000356080.4	37	c.2095	CCDS7561.1	10																																																																																			0	NULL		0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	protein_coding	OTTHUMT00000050289.1	82	214	0	0.93	0	2	A	NM_019903	0	0		111893350	1	no_errors	ENST00000356080	ensembl	human	known	74_37	frame_shift_del	49	209	23.44	22.01	15	59	DEL	1	0
KIAA1598	57698	genome.wustl.edu	37	10	118719757	118719757	+	Intron	DEL	A	A	-	rs202119476	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:118719757delA	ENST00000355371.4	-	4	670				KIAA1598_ENST00000392903.2_Intron|KIAA1598_ENST00000497044.1_Intron|KIAA1598_ENST00000260777.10_Intron|KIAA1598_ENST00000392901.4_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598						axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AATGAGGGGGAAAAAAAATCT	0.403																																							0											0													50.0	50.0	50.0					10																	118719757		2203	4300	6503	SO:0001627	intron_variant	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.173-16T>-	10.37:g.118719757delA			A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	RNA	DEL	0	NULL	ENST00000355371.4	37	NULL	CCDS44482.1	10																																																																																			0	0		0.403	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	protein_coding		26	234	0	0.43	0	1	A	NM_018330	0	0		118719757	-1	no_errors	ENST00000490615	ensembl	human	known	74_37	rna	21	204	16	25.82	4	71	DEL	0	0
PDZD8	118987	genome.wustl.edu	37	10	119100598	119100598	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr10:119100598delA	ENST00000334464.5	-	2	1127	c.888delT	c.(886-888)tttfs	p.F296fs		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	296					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTGGTATGGAAAAAACGGCT	0.353																																							0											0													125.0	112.0	117.0					10																	119100598		2203	4300	6503	SO:0001589	frameshift_variant	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.888delT	10.37:g.119100598delA	ENSP00000334642:p.Phe296fs		Q86WE0|Q86WE5|Q9UFF1	Frame_Shift_Del	DEL	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P297fs	ENST00000334464.5	37	c.888	CCDS7600.1	10																																																																																			0	NULL		0.353	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	protein_coding	OTTHUMT00000050565.1	170	265	0	0.00	0	0	A	NM_173791	0	0		119100598	-1	no_errors	ENST00000334464	ensembl	human	known	74_37	frame_shift_del	83	243	25.89	22.36	29	70	DEL	0.998	0
OR51E1	143503	genome.wustl.edu	37	11	4674217	4674217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:4674217delG	ENST00000396952.5	+	2	1111	c.461delG	c.(460-462)cggfs	p.R154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGTGGTGCGGGGGGCTGCA	0.557																																							0											1	Deletion - Frameshift(1)	ovary(1)											118.0	100.0	106.0					11																	4674217		2201	4298	6499	SO:0001589	frameshift_variant	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.461delG	11.37:g.4674217delG	ENSP00000380155:p.Arg154fs		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A156fs	ENST00000396952.5	37	c.461	CCDS31358.2	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	protein_coding	OTTHUMT00000347136.2	26	103	0	0.00	0	0	G	NM_152430	0	0		4674217	1	no_errors	ENST00000396952	ensembl	human	known	74_37	frame_shift_del	15	103	25	26.95	5	38	DEL	0.966	0
TRIM66	9866	genome.wustl.edu	37	11	8662084	8662084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:8662084delG	ENST00000299550.6	-	9	1597	c.1403delC	c.(1402-1404)ccafs	p.P470fs	TRIM66_ENST00000402157.2_Frame_Shift_Del_p.P468fs	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	470	Gln-rich.|Pro-rich.					aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						aaggggaggtgggggatgggg	0.632																																							0											0													14.0	13.0	13.0					11																	8662084		691	1579	2270	SO:0001589	frameshift_variant	0			AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.1403delC	11.37:g.8662084delG	ENSP00000299550:p.Pro470fs		Q9BQQ4	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Znf_PHD,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.P468fs	ENST00000299550.6	37	c.1403		11																																																																																			0	NULL		0.632	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	TRIM66	protein_coding		26	19	0	0.00	0	0	G	XM_084529	0	0		8662084	-1	no_errors	ENST00000299550	ensembl	human	known	74_37	frame_shift_del	21	19	25	13.64	7	3	DEL	0.043	0
MRGPRX3	117195	genome.wustl.edu	37	11	18159303	18159303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:18159303delT	ENST00000396275.2	+	3	915	c.554delT	c.(553-555)gttfs	p.V185fs		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCGTGGCTGGTTTTTTTATGT	0.507																																							0											0													151.0	139.0	143.0					11																	18159303		2200	4293	6493	SO:0001589	frameshift_variant	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.554delT	11.37:g.18159303delT	ENSP00000379571:p.Val185fs		B0M0L1|Q8TDE0|Q8TDE1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L187fs	ENST00000396275.2	37	c.554	CCDS7830.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	86	96	0	0.00	0	0	T	NM_054031	0	0		18159303	1	no_errors	ENST00000396275	ensembl	human	known	74_37	frame_shift_del	45	69	27.42	30.30	17	30	DEL	0.006	0
SPTY2D1	144108	genome.wustl.edu	37	11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-	rs370983685		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:18636367delG	ENST00000336349.5	-	3	1689	c.1454delC	c.(1453-1455)ccgfs	p.P485fs	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	485	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGACCGCCCCGGGGGGCCCAA	0.597																																							0											0													26.0	29.0	28.0					11																	18636367		2198	4292	6490	SO:0001589	frameshift_variant	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1454delC	11.37:g.18636367delG	ENSP00000337991:p.Pro485fs		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Del	DEL	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.P485fs	ENST00000336349.5	37	c.1454	CCDS31441.1	11																																																																																			0	NULL		0.597	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	protein_coding	OTTHUMT00000395941.1	62	101	0	0.00	0	0	G	NM_194285	0	0		18636367	-1	no_errors	ENST00000336349	ensembl	human	known	74_37	frame_shift_del	35	70	27.08	21.35	13	19	DEL	0	0
ANO5	203859	genome.wustl.edu	37	11	22301099	22301099	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:22301099delT	ENST00000324559.8	+	22	2847	c.2530delT	c.(2530-2532)tttfs	p.F844fs		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	844					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCATGTTGTGTTTTTAGTTAA	0.348																																							0											0													104.0	103.0	104.0					11																	22301099		2203	4300	6503	SO:0001589	frameshift_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2530delT	11.37:g.22301099delT	ENSP00000315371:p.Phe844fs			Frame_Shift_Del	DEL	pfam_Anoctamin	p.L845fs	ENST00000324559.8	37	c.2530	CCDS31444.1	11																																																																																			0	pfam_Anoctamin		0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	protein_coding	OTTHUMT00000387615.1	38	276	0	0.00	0	0	T	NM_213599	0	0		22301099	1	no_errors	ENST00000324559	ensembl	human	known	74_37	frame_shift_del	27	215	40	33.23	18	107	DEL	0.998	0
MUC15	143662	genome.wustl.edu	37	11	26587427	26587427	+	5'UTR	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:26587427delT	ENST00000455601.2	-	0	97				MUC15_ENST00000281268.8_Frame_Shift_Del_p.K20fs|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Frame_Shift_Del_p.K20fs|MUC15_ENST00000527569.1_Frame_Shift_Del_p.K20fs|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Frame_Shift_Del_p.K20fs|ANO3_ENST00000531568.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGTATTGGTTTTTTTTTAA	0.289																																							0											0													30.0	31.0	30.0					11																	26587427		2174	4267	6441	SO:0001623	5_prime_UTR_variant	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.-22A>-	11.37:g.26587427delT			B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Frame_Shift_Del	DEL	NULL	p.K20fs	ENST00000455601.2	37	c.60	CCDS7859.1	11																																																																																			0	NULL		0.289	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	protein_coding	OTTHUMT00000387866.1	48	303	2.04	0.00	1	0	T	NM_145650	0	0		26587427	-1	no_errors	ENST00000436318	ensembl	human	known	74_37	frame_shift_del	27	261	30.77	26.48	12	94	DEL	0	0
WT1-AS	51352	genome.wustl.edu	37	11	32461025	32461026	+	RNA	INS	-	-	G	rs373529925|rs386373507|rs57991818|rs113953318|rs199598071|rs144116821|rs59966210	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:32461025_32461026insG	ENST00000395900.1	+	0	1903_1904				WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000478367.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AATTAAAAAAAGGGGGGGGCAA	0.485																																							0											0																																												0			BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32461033_32461033dupG			Q4KMY0|Q96A27	RNA	INS	0	NULL	ENST00000395900.1	37	NULL		11																																																																																			0	0		0.485	WT1-AS-001	KNOWN	basic	antisense	WT1-AS	antisense	OTTHUMT00000095437.1	30	176	0	0.56	0	1	0	NR_023920	0	0		32461026	1	no_errors	ENST00000395900	ensembl	human	known	74_37	rna	19	143	32.14	17.82	9	31	INS	0.000:0.000	G
BEST1	7439	genome.wustl.edu	37	11	61730428	61730429	+	Intron	DEL	CT	CT	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:61730428_61730429delCT	ENST00000378043.4	+	10	2382				BEST1_ENST00000378042.3_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_Frame_Shift_Del_p.A541fs|BEST1_ENST00000301774.9_Frame_Shift_Del_p.A229fs	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GCTTCCCTTGCTCTGAGCCTAC	0.559																																							0											0																																										SO:0001627	intron_variant	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1739+63CT>-	11.37:g.61730430_61730431delCT			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Frame_Shift_Del	DEL	pfam_Bestrophin/UPF0187	p.L542fs	ENST00000378043.4	37	c.1622_1623	CCDS31580.1	11																																																																																			0	NULL		0.559	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	protein_coding	OTTHUMT00000394715.1	46	154	0	0.00	0	0	CT	NM_004183	0	0		61730429	1	no_errors	ENST00000449131	ensembl	human	known	74_37	frame_shift_del	18	152	35.71	23.23	10	46	DEL	0.001:0.000	0
MACROD1	28992	genome.wustl.edu	37	11	63886067	63886069	+	Intron	DEL	TTT	TTT	-	rs10570373|rs398016367	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TTT	TTT	TTT	-	TTT	TTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:63886067_63886069delTTT	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_3'UTR|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGGGTTGGGTTTTTTTTTTTTC	0.458																																							0											0																																										SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+32641AAA>-	11.37:g.63886076_63886078delTTT			Q9UH96	RNA	DEL	0	NULL	ENST00000255681.6	37	NULL	CCDS8056.1	11																																																																																			0	0		0.458	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256341	protein_coding	OTTHUMT00000396570.1	124	122	0	0.81	0	1	TTT	NM_014067	0	0		63886069	-1	no_errors	ENST00000543817	ensembl	human	known	74_37	rna	62	104	36.08	29.73	35	44	DEL	0.001:0.000:0.000	0
NRXN2	9379	genome.wustl.edu	37	11	64457919	64457919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:64457919delC	ENST00000377551.1	-	4	1019	c.808delG	c.(808-810)gccfs	p.A270fs	NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Frame_Shift_Del_p.A270fs|NRXN2_ENST00000265459.6_Frame_Shift_Del_p.A270fs			Q9P2S2	NRX2A_HUMAN	neurexin 2	270					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A270fs*27(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCTCCCGGCCCCCCCCTCG	0.637																																							0											1	Insertion - Frameshift(1)	central_nervous_system(1)											37.0	37.0	37.0					11																	64457919		2201	4297	6498	SO:0001589	frameshift_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.808delG	11.37:g.64457919delC	ENSP00000366774:p.Ala270fs		A7E2C1|Q9Y2D6	Frame_Shift_Del	DEL	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A270fs	ENST00000377551.1	37	c.808	CCDS8077.1	11																																																																																			0	NULL		0.637	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	protein_coding	OTTHUMT00000104967.3	150	156	0	0.64	0	1	C	NM_015080	0	0		64457919	-1	no_errors	ENST00000265459	ensembl	human	known	74_37	frame_shift_del	98	122	26.32	25.61	35	42	DEL	1	0
TRIM77	390231	genome.wustl.edu	37	11	89444611	89444611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:89444611delA	ENST00000398290.3	+	2	445	c.445delA	c.(445-447)aaafs	p.K151fs		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	151						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTCCATCTGGAAAAAAAAACA	0.323																																							0											0													34.0	34.0	34.0					11																	89444611		692	1587	2279	SO:0001589	frameshift_variant	0				CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.445delA	11.37:g.89444611delA	ENSP00000474003:p.Lys151fs			Frame_Shift_Del	DEL	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K151fs	ENST00000398290.3	37	c.445		11																																																																																			0	NULL		0.323	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	TRIM77	protein_coding		84	87	0	0.00	0	0	A	NM_001146162	0	0		89444611	1	no_errors	ENST00000398290	ensembl	human	known	74_37	frame_shift_del	56	67	16.42	28.72	11	27	DEL	0.039	0
C11orf97	643037	genome.wustl.edu	37	11	94265163	94265164	+	lincRNA	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:94265163_94265164insA	ENST00000542198.1	+	0	426_427																											AAGATGTGTGCAAAAAAATGAT	0.312																																							0											0																																												0																															11.37:g.94265170_94265170dupA				RNA	INS	0	NULL	ENST00000542198.1	37	NULL		11																																																																																			0	0		0.312	RP11-867G2.2-001	KNOWN	basic	lincRNA	ENSG00000257057	lincRNA	OTTHUMT00000396326.1	110	288	0	0.69	0	2	0		0	0		94265164	1	no_errors	ENST00000542198	ensembl	human	known	74_37	rna	32	247	23.81	25.83	10	86	INS	0.000:0.002	A
NCAM1	4684	genome.wustl.edu	37	11	113147558	113147558	+	3'UTR	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:113147558delG	ENST00000397957.4	+	0	4237				RP11-839D17.3_ENST00000526487.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA|RP11-839D17.3_ENST00000529416.1_RNA|NCAM1_ENST00000316851.7_3'UTR|RP11-839D17.3_ENST00000533504.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGGGATGGGAGGGGGGGGAGA	0.433																																							0											0																																										SO:0001624	3_prime_UTR_variant	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*4234G>-	11.37:g.113147558delG			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	DEL	0	NULL	ENST00000397957.4	37	NULL		11																																																																																			0	0		0.433	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	protein_coding	OTTHUMT00000393677.2	74	118	0	0.00	0	0	G	NM_000615	0	0		113147558	1	no_errors	ENST00000397957	ensembl	human	known	74_37	rna	52	110	23.53	25.17	16	37	DEL	0.998	0
BCL9L	283149	genome.wustl.edu	37	11	118769235	118769236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:118769235_118769236insG	ENST00000334801.3	-	8	5352_5353	c.4388_4389insC	c.(4387-4389)ccgfs	p.P1463fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1463					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTGCTGGGGCGGGGGGCCCAT	0.683																																							0											0																																										SO:0001589	frameshift_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4389dupC	11.37:g.118769241_118769241dupG	ENSP00000335320:p.Pro1463fs		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	pfam_BCL9_beta-catenin-bd_dom	p.P1464fs	ENST00000334801.3	37	c.4389_4388	CCDS8403.1	11																																																																																			0	NULL		0.683	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	30	13	0	0.00	0	0	0	NM_182557	0	0		118769236	-1	no_errors	ENST00000334801	ensembl	human	known	74_37	frame_shift_ins	13	17	35	10.53	7	2	INS	0.036:0.989	G
SCNN1A	6337	genome.wustl.edu	37	12	6457044	6457045	+	Frame_Shift_Ins	INS	-	-	C	rs576872942|rs539360032		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6457044_6457045insC	ENST00000228916.2	-	13	2102_2103	c.2004_2005insG	c.(2002-2007)gggcccfs	p.P669fs	SCNN1A_ENST00000543768.1_Frame_Shift_Ins_p.P692fs|SCNN1A_ENST00000360168.3_Frame_Shift_Ins_p.P728fs|SCNN1A_ENST00000358945.3_Frame_Shift_Ins_p.P691fs|SCNN1A_ENST00000540037.1_Frame_Shift_Ins_p.P369fs|SCNN1A_ENST00000396966.2_3'UTR	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	669					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCCTCTCAGGGCCCCCCCAGAG	0.658																																							0											0																																										SO:0001589	frameshift_variant	0			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.2005dupG	12.37:g.6457051_6457051dupC	ENSP00000228916:p.Pro669fs		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Frame_Shift_Ins	INS	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.P690fs	ENST00000228916.2	37	c.2071_2070	CCDS8543.1	12																																																																																			0	NULL		0.658	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	protein_coding	OTTHUMT00000399055.1	22	88	0	0.00	0	0	0		0	0		6457045	-1	no_errors	ENST00000358945	ensembl	human	known	74_37	frame_shift_ins	17	78	37.04	22.77	10	23	INS	0.991:0.917	C
NOP2	4839	genome.wustl.edu	37	12	6669943	6669943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6669943delC	ENST00000322166.5	-	13	1479	c.1358delG	c.(1357-1359)ggcfs	p.G453fs	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Frame_Shift_Del_p.G486fs|NOP2_ENST00000537442.1_Frame_Shift_Del_p.G453fs|NOP2_ENST00000399466.2_Frame_Shift_Del_p.G449fs|NOP2_ENST00000541778.1_Frame_Shift_Del_p.G449fs|NOP2_ENST00000545200.1_Frame_Shift_Del_p.G449fs	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	453					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TCGGTCAAAGCCCCCCACCAC	0.522																																							0											0													37.0	40.0	39.0					12																	6669943		1994	4170	6164	SO:0001589	frameshift_variant	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1358delG	12.37:g.6669943delC	ENSP00000313272:p.Gly453fs		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Frame_Shift_Del	DEL	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.G453fs	ENST00000322166.5	37	c.1358	CCDS58203.1	12																																																																																			0	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p		0.522	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	protein_coding	OTTHUMT00000402614.1	27	200	0	0.00	0	0	C	NM_006170	0	0		6669943	-1	no_errors	ENST00000322166	ensembl	human	known	74_37	frame_shift_del	17	144	29.17	27.27	7	54	DEL	1	0
CD4	920	genome.wustl.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1209)ctggggfs	p.LG402fs		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	402					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTGATTGTGCTGGGGGGCGTCG	0.629																																							0											0																																										SO:0001589	frameshift_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1211dupG	12.37:g.6927641_6927641dupG	ENSP00000011653:p.Leu402fs		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4	p.V405fs	ENST00000011653.4	37	c.1205_1206	CCDS8562.1	12																																																																																			0	NULL		0.629	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	protein_coding	OTTHUMT00000399978.1	25	64	0	0.00	0	0	0	NM_000616	0	0		6927636	1	no_errors	ENST00000011653	ensembl	human	known	74_37	frame_shift_ins	19	54	26.92	26.03	7	19	INS	0.034:0.049	G
TAS2R14	50840	genome.wustl.edu	37	12	11091565	11091566	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:11091565_11091566insT	ENST00000537503.1	-	1	296_297	c.241_242insA	c.(241-243)atgfs	p.M81fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTCTGAACATTTTTTCAGTG	0.391																																							0											0										0,4264		0,0,2132						-4.6	0.0			56	1,8253		0,1,4126	no	frameshift	TAS2R14	NM_023922.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	0			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.242dupA	12.37:g.11091571_11091571dupT	ENSP00000441949:p.Met81fs		Q645X3	Frame_Shift_Ins	INS	pfam_TAS2_rcpt	p.M81fs	ENST00000537503.1	37	c.242_241	CCDS8637.1	12																																																																																			0	pfam_TAS2_rcpt		0.391	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TAS2R14	protein_coding	OTTHUMT00000370194.4	104	261	0	0.00	0	0	0	NM_023922	0	0		11091566	-1	no_errors	ENST00000537503	ensembl	human	known	74_37	frame_shift_ins	57	218	31.33	24.04	26	69	INS	0.000:0.000	T
ABCC9	10060	genome.wustl.edu	37	12	21997479	21997480	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:21997479_21997480insA	ENST00000261201.4	-	26	3251_3252	c.3252_3253insT	c.(3250-3255)tttgatfs	p.D1085fs	ABCC9_ENST00000261200.4_Frame_Shift_Ins_p.D1085fs|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Frame_Shift_Ins_p.D1049fs	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1085	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GGTGTGGTATCAAAAAACCTAG	0.371																																							0											0																																										SO:0001589	frameshift_variant	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3253dupT	12.37:g.21997485_21997485dupA	ENSP00000261201:p.Asp1085fs		O60707	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.D1084fs	ENST00000261201.4	37	c.3253_3252	CCDS8694.1	12																																																																																			0	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.371	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	protein_coding	OTTHUMT00000402230.1	81	152	0	0.00	0	0	0	NM_005691	0	0		21997480	-1	no_errors	ENST00000261200	ensembl	human	known	74_37	frame_shift_ins	72	142	20	29.70	18	60	INS	1.000:1.000	A
MUC19	283463	genome.wustl.edu	37	12	40840397	40840397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:40840397delG	ENST00000454784.4	+	31	3824	c.3091delG	c.(3091-3093)gggfs	p.G1032fs	RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric	1032	Approximate repeats of G-V-T-G-T-T-G-P-S- A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						CATACCAGCAGGGGGAGTGAT	0.383																																							0											0																																										SO:0001589	frameshift_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.3091delG	12.37:g.40840397delG	ENSP00000476404:p.Gly1032fs		Q8NA85	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich	p.G1032fs	ENST00000454784.4	37	c.3091		12																																																																																			0	NULL		0.383	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	protein_coding	OTTHUMT00000384257.6	83	156	1.19	0.00	1	0	G	XM_003403524	0	0		40840397	1	no_errors	ENST00000454784	ensembl	human	novel	74_37	frame_shift_del	56	134	33.33	22.54	28	39	DEL	1	0
ZNF385A	25946	genome.wustl.edu	37	12	54763757	54763757	+	3'UTR	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:54763757delG	ENST00000338010.5	-	0	1497				ZNF385A_ENST00000551109.1_3'UTR|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000546970.1_3'UTR|ZNF385A_ENST00000352268.6_3'UTR|ZNF385A_ENST00000394313.2_3'UTR|RP11-753H16.5_ENST00000552785.1_RNA	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GCTTTTGGGAGGGGGGGTGTC	0.632																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.*283C>-	12.37:g.54763757delG			B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	RNA	DEL	0	NULL	ENST00000338010.5	37	NULL	CCDS44911.1	12																																																																																			0	0		0.632	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	protein_coding	OTTHUMT00000406162.1	71	34	1.39	0.00	1	0	G	NM_015481	0	0		54763757	-1	no_errors	ENST00000552382	ensembl	human	known	74_37	rna	39	28	20.41	15.15	10	5	DEL	1	0
MMP19	4327	genome.wustl.edu	37	12	56230905	56230905	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:56230905delG	ENST00000322569.4	-	9	1533	c.1442delC	c.(1441-1443)ccafs	p.P481fs	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000394182.1_Frame_Shift_Del_p.P195fs|MMP19_ENST00000548629.1_Frame_Shift_Del_p.P458fs|TMEM198B_ENST00000478241.1_RNA	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	481					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CCCACCTGATGGGGTAGTGTC	0.517																																							0											0													250.0	248.0	249.0					12																	56230905		2203	4300	6503	SO:0001589	frameshift_variant	0			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1442delC	12.37:g.56230905delG	ENSP00000313437:p.Pro481fs		B4E030|O15278|O95606|Q99580	Frame_Shift_Del	DEL	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.P481fs	ENST00000322569.4	37	c.1442	CCDS8895.1	12																																																																																			0	NULL		0.517	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	protein_coding	OTTHUMT00000408023.1	40	239	0	0.00	0	0	G	NM_002429	0	0		56230905	-1	no_errors	ENST00000322569	ensembl	human	known	74_37	frame_shift_del	31	160	24.39	37.50	10	96	DEL	0	0
XPOT	11260	genome.wustl.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																							0											1	Deletion - Frameshift(1)	large_intestine(1)											118.0	114.0	115.0					12																	64812755		2203	4300	6503	SO:0001589	frameshift_variant	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.F126fs	ENST00000332707.5	37	c.370	CCDS31852.1	12																																																																																			0	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	protein_coding	OTTHUMT00000401122.1	120	158	0	0.63	0	1	T	NM_007235	0	0		64812755	1	no_errors	ENST00000332707	ensembl	human	known	74_37	frame_shift_del	61	115	31.46	30.30	28	50	DEL	1	0
LRRIQ1	84125	genome.wustl.edu	37	12	85449668	85449668	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:85449668delA	ENST00000393217.2	+	8	1158	c.1097delA	c.(1096-1098)gaafs	p.E366fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	366	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		gaatatgaagaaaaaaagaAT	0.313																																							0											0													24.0	27.0	26.0					12																	85449668		2191	4274	6465	SO:0001589	frameshift_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1097delA	12.37:g.85449668delA	ENSP00000376910:p.Glu366fs		Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.K368fs	ENST00000393217.2	37	c.1097	CCDS41816.1	12																																																																																			0	NULL		0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	131	107	0	0.00	0	0	A	NM_032165	0	0		85449668	1	no_errors	ENST00000393217	ensembl	human	known	74_37	frame_shift_del	66	95	34	25.78	34	33	DEL	0.92	0
UHRF1BP1L	23074	genome.wustl.edu	37	12	100441791	100441791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr12:100441791delA	ENST00000279907.7	-	18	4114	c.3902delT	c.(3901-3903)ttgfs	p.L1301fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.L951fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1301										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCATCTTCCAAAAAATGTTG	0.284																																							0											0													28.0	29.0	29.0					12																	100441791		2202	4300	6502	SO:0001589	frameshift_variant	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3902delT	12.37:g.100441791delA	ENSP00000279907:p.Leu1301fs		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Del	DEL	NULL	p.L1301fs	ENST00000279907.7	37	c.3902	CCDS31882.1	12																																																																																			0	NULL		0.284	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	protein_coding	OTTHUMT00000407875.1	96	226	0	0.00	0	0	A	NM_001006947	0	0		100441791	-1	no_errors	ENST00000279907	ensembl	human	known	74_37	frame_shift_del	70	169	21.35	27.78	19	65	DEL	1	0
WASF3	10810	genome.wustl.edu	37	13	27255386	27255387	+	Frame_Shift_Ins	INS	-	-	C	rs529756888|rs141429361	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:27255386_27255387insC	ENST00000335327.5	+	8	1090_1091	c.912_913insC	c.(913-915)cccfs	p.P305fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P302fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	305	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678																																							0											0										82,4062		3,76,1993						-6.7	0.1			31	128,8010		7,114,3948	no	frameshift	WASF3	NM_006646.5		10,190,5941	A1A1,A1R,RR		1.5729,1.9788,1.7098				210,12072				SO:0001589	frameshift_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.920dupC	13.37:g.27255394_27255394dupC	ENSP00000335055:p.Pro305fs		O94974|Q86VQ2	Frame_Shift_Ins	INS	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P307fs	ENST00000335327.5	37	c.912_913	CCDS9318.1	13																																																																																			0	NULL		0.678	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	protein_coding	OTTHUMT00000044258.1	28	27	0	0.00	0	0	0		0	0		27255387	1	no_errors	ENST00000335327	ensembl	human	known	74_37	frame_shift_ins	11	25	59.26	37.50	16	15	INS	0.439:0.975	C
LRRC63	220416	genome.wustl.edu	37	13	46840907	46840907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:46840907delT	ENST00000595396.1	+	8	1350	c.1350delT	c.(1348-1350)agtfs	p.S450fs	LRRC63_ENST00000446175.1_Frame_Shift_Del_p.S450fs			Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	450										lung(1)|ovary(1)	2						ATGAACTGAGTTTTTTCCCCC	0.289																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.1350delT	13.37:g.46840907delT	ENSP00000469337:p.Ser450fs		Q5TBN0	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F452fs	ENST00000595396.1	37	c.1350		13																																																																																			0	smart_Leu-rich_rpt_typical-subtyp		0.289	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LRRC63	protein_coding	OTTHUMT00000463266.1	121	274	0	0.00	0	0	T	XM_001718341	0	0		46840907	1	no_errors	ENST00000446175	ensembl	human	known	74_37	frame_shift_del	67	248	29.47	23.22	28	75	DEL	0	0
INTS6	26512	genome.wustl.edu	37	13	51969467	51969468	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:51969467_51969468delAG	ENST00000311234.4	-	5	1053_1054	c.581_582delCT	c.(580-582)tctfs	p.S194fs	INTS6_ENST00000497989.1_Frame_Shift_Del_p.S16fs|INTS6_ENST00000420668.2_Intron|INTS6_ENST00000398119.2_Frame_Shift_Del_p.S181fs|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Frame_Shift_Del_p.S194fs	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	194	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTGTGATTGCAGAGTCATCTAA	0.416																																							0											0																																										SO:0001589	frameshift_variant	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.581_582delCT	13.37:g.51969469_51969470delAG	ENSP00000310260:p.Ser194fs		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Frame_Shift_Del	DEL	pfam_VWF_A,pfscan_VWF_A	p.S194fs	ENST00000311234.4	37	c.582_581	CCDS9428.1	13																																																																																			0	pfscan_VWF_A		0.416	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	protein_coding	OTTHUMT00000045023.1	91	76	0	0.00	0	0	AG	NM_012141	0	0		51969468	-1	no_errors	ENST00000311234	ensembl	human	known	74_37	frame_shift_del	49	74	26.87	26.00	18	26	DEL	1.000:1.000	0
RNF219-AS1	100874222	genome.wustl.edu	37	13	79154451	79154454	+	RNA	DEL	TCTT	TCTT	-	rs77778131	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TCTT	TCTT	TCTT	-	TCTT	TCTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:79154451_79154454delTCTT	ENST00000607862.1	+	0	2155_2158				RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000444769.3_RNA					RNF219 antisense RNA 1																		TGGGGCTCTCTCTTTATTTAACAA	0.397																																							0											0																																												0					13q31.1	2014-03-25	2013-02-22	2013-02-22	ENSG00000234377	ENSG00000234377		"""Long non-coding RNAs"""	42700	non-coding RNA	RNA, long non-coding			"""POU4F1 antisense RNA 1"""	POU4F1-AS1			Standard	NR_047001		Approved		uc001vks.3		OTTHUMG00000185746		13.37:g.79154451_79154454delTCTT				RNA	DEL	0	NULL	ENST00000607862.1	37	NULL		13																																																																																			0	0		0.397	RNF219-AS1-013	KNOWN	basic	antisense	RNF219-AS1	antisense	OTTHUMT00000471155.1	11	217	0	0.00	0	0	TCTT		0	0		79154454	1	no_errors	ENST00000607862	ensembl	human	known	74_37	rna	4	202	33.33	23.77	2	63	DEL	0.004:0.004:0.004:0.005	0
SLITRK6	84189	genome.wustl.edu	37	13	86368997	86368997	+	Frame_Shift_Del	DEL	G	G	-	rs370271415		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr13:86368997delG	ENST00000400286.2	-	2	2245	c.1647delC	c.(1645-1647)cccfs	p.P549fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	549	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CGAGATGCCCGGGGGAAGTGC	0.453																																							0											0													88.0	89.0	88.0					13																	86368997		1943	4139	6082	SO:0001589	frameshift_variant	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1647delC	13.37:g.86368997delG	ENSP00000383143:p.Pro549fs		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.H551fs	ENST00000400286.2	37	c.1647	CCDS41903.1	13																																																																																			0	smart_Cys-rich_flank_reg_C		0.453	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	protein_coding	OTTHUMT00000045404.2	32	195	0	0.00	0	0	G	NM_032229	0	0		86368997	-1	no_errors	ENST00000400286	ensembl	human	known	74_37	frame_shift_del	13	183	27.78	16.06	5	35	DEL	0.771	0
ARHGAP5	394	genome.wustl.edu	37	14	32562695	32562696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:32562695_32562696insA	ENST00000345122.3	+	2	3135_3136	c.2820_2821insA	c.(2821-2823)aaafs	p.K941fs	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Ins_p.K941fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Ins_p.K941fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Ins_p.K941fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	941					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.N943fs*2(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGTTCTAGAGAAAAAAAATAT	0.342																																					NSCLC(9;77 350 3443 29227 41353)		0											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2828dupA	14.37:g.32562703_32562703dupA	ENSP00000371897:p.Lys941fs		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.N942fs	ENST00000345122.3	37	c.2820_2821	CCDS32062.1	14																																																																																			0	NULL		0.342	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	protein_coding	OTTHUMT00000409735.1	106	81	0	0.00	0	0	0	NM_001030055	0	0		32562696	1	no_errors	ENST00000345122	ensembl	human	known	74_37	frame_shift_ins	55	89	31.25	19.82	25	22	INS	1.000:1.000	A
SLC25A47	283600	genome.wustl.edu	37	14	100795092	100795093	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:100795092_100795093insA	ENST00000361529.3	+	5	435_436	c.357_358insA	c.(358-360)aaafs	p.K120fs	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	120					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CTGAGGTGGCCAAAGTCCGCTT	0.673																																					GBM(11;1289 1351)		0											0																																										SO:0001589	frameshift_variant	0				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.360dupA	14.37:g.100795095_100795095dupA	ENSP00000354886:p.Lys120fs		B2RP39|Q68CL2|Q6PZD8|Q86U14	Frame_Shift_Ins	INS	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.V120fs	ENST00000361529.3	37	c.357_358	CCDS9959.1	14																																																																																			0	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.673	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	protein_coding	OTTHUMT00000414231.1	42	38	0	0.00	0	0	0		0	0		100795093	1	no_errors	ENST00000361529	ensembl	human	known	74_37	frame_shift_ins	18	27	28	40.00	7	18	INS	1.000:1.000	A
CEP170B	283638	genome.wustl.edu	37	14	105353222	105353223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr14:105353222_105353223insC	ENST00000414716.3	+	12	2874_2875	c.2646_2647insC	c.(2647-2649)cccfs	p.P883fs	CEP170B_ENST00000418279.1_Frame_Shift_Ins_p.P813fs|CEP170B_ENST00000556508.1_Frame_Shift_Ins_p.P813fs|CEP170B_ENST00000453495.1_Frame_Shift_Ins_p.P884fs	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	883						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGCCCGGCAAGCCCCCCCACAT	0.673																																							0											0																																										SO:0001589	frameshift_variant	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2653dupC	14.37:g.105353229_105353229dupC	ENSP00000404151:p.Pro883fs		Q2KHR7|Q86TI7	Frame_Shift_Ins	INS	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.H885fs	ENST00000414716.3	37	c.2649_2650	CCDS45175.1	14																																																																																			0	NULL		0.673	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	protein_coding	OTTHUMT00000410289.2	52	113	0	0.00	0	0	0	NM_001112726	0	0		105353223	1	no_errors	ENST00000453495	ensembl	human	known	74_37	frame_shift_ins	37	83	33.93	26.55	19	30	INS	0.910:0.969	C
IRX3	79191	genome.wustl.edu	37	16	54319086	54319087	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:54319086_54319087insC	ENST00000329734.3	-	2	1418_1419	c.706_707insG	c.(706-708)gagfs	p.E236fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	236	Asp/Glu-rich (acidic).				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E236fs*24(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						gtcctcctcctcccccccgagc	0.658																																					GBM(143;1830 1866 4487 4646 37383)		0											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.707dupG	16.37:g.54319093_54319093dupC	ENSP00000331608:p.Glu236fs		Q7Z4A4|Q7Z4A5|Q8IVC6	Frame_Shift_Ins	INS	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.E236fs	ENST00000329734.3	37	c.707_706	CCDS10750.1	16																																																																																			0	NULL		0.658	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX3	protein_coding	OTTHUMT00000256910.2	20	125	0	0.00	0	0	0		0	0		54319087	-1	no_errors	ENST00000329734	ensembl	human	known	74_37	frame_shift_ins	5	48	50	37.66	5	29	INS	1.000:1.000	C
E2F4	1874	genome.wustl.edu	37	16	67229793	67229794	+	In_Frame_Ins	INS	-	-	CAG	rs3830472|rs552823502|rs562856782		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	CAG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:67229793_67229794insCAG	ENST00000379378.3	+	7	976_977	c.917_918insCAG	c.(916-921)gacagc>gaCAGcagc	p.319_320insS		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	319	Poly-Ser.		S -> SSSS.		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S319_N320insS(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCCCTGCTGGAcagcagcagca	0.604																																							0											1	Insertion - In frame(1)	breast(1)																																								SO:0001652	inframe_insertion	0			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.954_956dupCAG	16.37:g.67229800_67229802dupCAG	ENSP00000368686:p.Ser320_Ser321dup		A6NGR8|B5BU56|Q12991|Q15328	In_Frame_Ins	INS	pfam_E2F_TDP	p.310in_frame_insS	ENST00000379378.3	37	c.917_918	CCDS32464.1	16																																																																																			0	NULL		0.604	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	protein_coding	OTTHUMT00000421565.1	46	31	0	0.00	0	0	0	NM_001950	0	0		67229794	1	no_errors	ENST00000379378	ensembl	human	known	74_37	in_frame_ins	19	15	13.64	21.05	3	4	INS	1.000:0.995	CAG
PELP1	27043	genome.wustl.edu	37	17	4576011	4576012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:4576011_4576012insC	ENST00000574876.1	-	16	2291_2292	c.2274_2275insG	c.(2272-2277)gggagafs	p.R759fs	AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Frame_Shift_Ins_p.R669fs|PELP1_ENST00000572293.1_Frame_Shift_Ins_p.R809fs|PELP1_ENST00000301396.4_Frame_Shift_Ins_p.R903fs|PELP1_ENST00000436683.2_Frame_Shift_Ins_p.R612fs			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	759	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGCACTCTCCCCCCAAAAG	0.569																																							0											0																																										SO:0001589	frameshift_variant	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2275dupG	17.37:g.4576017_4576017dupC	ENSP00000461625:p.Arg759fs		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Frame_Shift_Ins	INS	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.R902fs	ENST00000574876.1	37	c.2707_2706	CCDS58503.1	17																																																																																			0	NULL		0.569	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	protein_coding	OTTHUMT00000439140.2	44	95	0	0.00	0	0	0	NM_014389	0	0		4576012	-1	no_errors	ENST00000301396	ensembl	human	known	74_37	frame_shift_ins	26	91	39.53	26.02	17	32	INS	0.905:0.913	C
UBB	7314	genome.wustl.edu	37	17	16285784	16285785	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:16285784_16285785insC	ENST00000395837.1	+	2	744_745	c.563_564insC	c.(562-567)atccccfs	p.IP188fs	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Frame_Shift_Ins_p.IP188fs|UBB_ENST00000395839.1_Frame_Shift_Ins_p.IP188fs|UBB_ENST00000535788.1_Frame_Shift_Ins_p.IP112fs|UBB_ENST00000578649.1_3'UTR	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	188	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.D191fs*35(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAAGAAGGCATCCCCCCCGACC	0.545																																					Melanoma(163;1126 3406 34901)		0											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0				CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.570dupC	17.37:g.16285791_16285791dupC	ENSP00000379178:p.Ile188fs		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Frame_Shift_Ins	INS	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup	p.D191fs	ENST00000395837.1	37	c.563_564	CCDS11177.1	17																																																																																			0	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup		0.545	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	UBB	protein_coding	OTTHUMT00000130459.1	77	57	0	0.00	0	0	0	NM_018955	0	0		16285785	1	no_errors	ENST00000302182	ensembl	human	novel	74_37	frame_shift_ins	49	39	26.87	31.58	18	18	INS	1.000:0.986	C
GPATCH8	23131	genome.wustl.edu	37	17	42483347	42483348	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:42483347_42483348insT	ENST00000591680.1	-	7	594_595	c.564_565insA	c.(562-567)aaacagfs	p.Q189fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.Q111fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	189							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTTTTTCCTGTTTTTTCTCAT	0.401																																							0											0																																										SO:0001589	frameshift_variant	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.565dupA	17.37:g.42483353_42483353dupT	ENSP00000467556:p.Gln189fs		B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.Q188fs	ENST00000591680.1	37	c.565_564	CCDS32666.1	17																																																																																			0	NULL		0.401	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	protein_coding	OTTHUMT00000457797.1	68	217	0	0.00	0	0	0	NM_001002909	0	0		42483348	-1	no_errors	ENST00000591680	ensembl	human	known	74_37	frame_shift_ins	55	175	25.68	26.16	19	62	INS	1.000:1.000	T
TANC2	26115	genome.wustl.edu	37	17	61482503	61482504	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr17:61482503_61482504insG	ENST00000424789.2	+	18	3134_3135	c.3130_3131insG	c.(3130-3132)aggfs	p.R1044fs	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Frame_Shift_Ins_p.R1044fs|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1044					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCAGCCGGAAGGGGCAAACTG	0.569																																							0											0																																										SO:0001589	frameshift_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3134dupG	17.37:g.61482507_61482507dupG	ENSP00000387593:p.Arg1044fs		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.K1046fs	ENST00000424789.2	37	c.3130_3131	CCDS45754.1	17																																																																																			0	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.569	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	protein_coding	OTTHUMT00000444765.1	42	177	0	0.00	0	0	0		0	0		61482504	1	no_errors	ENST00000424789	ensembl	human	known	74_37	frame_shift_ins	18	146	18.18	27.00	4	54	INS	1.000:1.000	G
ANKRD12	23253	genome.wustl.edu	37	18	9256772	9256773	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr18:9256772_9256773insA	ENST00000262126.4	+	9	3747_3748	c.3507_3508insA	c.(3508-3510)aaafs	p.K1170fs	ANKRD12_ENST00000383440.2_Frame_Shift_Ins_p.K1147fs|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Frame_Shift_Ins_p.K1147fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1170						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTGTTGACACCAAAAATGTAAT	0.381																																							0											0																																										SO:0001589	frameshift_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3512dupA	18.37:g.9256777_9256777dupA	ENSP00000262126:p.Lys1170fs		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N1170fs	ENST00000262126.4	37	c.3507_3508	CCDS11843.1	18																																																																																			0	NULL		0.381	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	47	211	0	0.00	0	0	0	NM_015208	0	0		9256773	1	no_errors	ENST00000262126	ensembl	human	known	74_37	frame_shift_ins	46	230	22.03	17.27	13	48	INS	0.998:1.000	A
FAM83E	54854	genome.wustl.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723																																							0											0																																										SO:0001589	frameshift_variant	0			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.890dupC	19.37:g.49107044_49107044dupG	ENSP00000263266:p.Gln297fs		Q9NXK1	Frame_Shift_Ins	INS	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.Q297fs	ENST00000263266.3	37	c.890_889	CCDS42587.1	19																																																																																			0	NULL		0.723	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	protein_coding	OTTHUMT00000466145.1	46	28	0	0.00	0	0	0	NM_017708	0	0		49107038	-1	no_errors	ENST00000263266	ensembl	human	known	74_37	frame_shift_ins	30	39	11.76	11.36	4	5	INS	0.000:0.001	G
CSRP2BP	57325	genome.wustl.edu	37	20	18125916	18125917	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:18125916_18125917insT	ENST00000435364.3	+	2	640_641	c.299_300insT	c.(298-303)aattttfs	p.NF100fs	CSRP2BP_ENST00000377681.3_Frame_Shift_Ins_p.NF100fs|CSRP2BP_ENST00000489634.2_5'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	100					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AAGGGTGATAATTTTTTTAGGT	0.441																																							0											0																																										SO:0001589	frameshift_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.306dupT	20.37:g.18125923_18125923dupT	ENSP00000392318:p.Asn100fs		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Frame_Shift_Ins	INS	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.R103fs	ENST00000435364.3	37	c.299_300	CCDS13133.1	20																																																																																			0	NULL		0.441	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	protein_coding	OTTHUMT00000078152.5	41	170	0	0.00	0	0	0	NM_020536	0	0		18125917	1	no_errors	ENST00000435364	ensembl	human	known	74_37	frame_shift_ins	31	147	34.04	23.83	16	46	INS	1.000:1.000	T
RBBP8NL	140893	genome.wustl.edu	37	20	60990955	60990956	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:60990955_60990956insG	ENST00000252998.1	-	7	588_589	c.432_433insC	c.(430-435)ccctcafs	p.S145fs		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	145						extracellular space (GO:0005615)											AGCAGGGGTGAGGGGGGGTCCG	0.683																																							0											0																																										SO:0001589	frameshift_variant	0			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.433dupC	20.37:g.60990962_60990962dupG	ENSP00000252998:p.Ser145fs		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Frame_Shift_Ins	INS	pfam_CtIP_N	p.S144fs	ENST00000252998.1	37	c.433_432	CCDS13498.1	20																																																																																			0	NULL		0.683	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	protein_coding	OTTHUMT00000080029.1	13	19	0	0.00	0	0	0	NM_080833	0	0		60990956	-1	no_errors	ENST00000252998	ensembl	human	known	74_37	frame_shift_ins	16	12	15.79	25.00	3	4	INS	0.246:0.005	G
ESX1	80712	genome.wustl.edu	37	X	103495107	103495107	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:103495107G>A	ENST00000372588.4	-	4	1106	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	341	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGGCGGCCCGGGTGGCACAC	0.806																																					Pancreas(200;1705 2227 25194 28471 45274)		0											0													1.0	3.0	2.0					X																	103495107		524	1808	2332	SO:0001819	synonymous_variant	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1023C>T	X.37:g.103495107G>A			B0QYU3|Q7Z6K7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.P341	ENST00000372588.4	37	c.1023	CCDS14516.1	X																																																																																			0	NULL		0.806	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	protein_coding	OTTHUMT00000057763.2	17	9	0	0.00	0	0	G	NM_153448	0	0		103495107	-1	no_errors	ENST00000372588	ensembl	human	known	74_37	silent	17	6	15	0.00	3	0	SNP	0	A
GPR153	387509	genome.wustl.edu	37	1	6314015	6314015	+	Silent	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:6314015G>A	ENST00000377893.2	-	3	808	c.549C>T	c.(547-549)agC>agT	p.S183S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCATGGCCACGCTGCCGCCCA	0.687																																							0											0													31.0	35.0	34.0					1																	6314015		2201	4298	6499	SO:0001819	synonymous_variant	0			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.549C>T	1.37:g.6314015G>A			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162	p.S183	ENST00000377893.2	37	c.549	CCDS64.1	1																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162		0.687	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	protein_coding	OTTHUMT00000003717.2	35	9	0	0.00	0	0	G		0	0		6314015	-1	no_errors	ENST00000377893	ensembl	human	known	74_37	silent	33	10	13.16	0.00	5	0	SNP	0.863	A
AL591415.1	0	genome.wustl.edu	37	1	48086784	48086784	+	RNA	SNP	T	T	C			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:48086784T>C	ENST00000408520.1	-	0	65																											TATATATATATACACACAAAC	0.453																																							0											0																																												0																															1.37:g.48086784T>C				RNA	SNP	0	NULL	ENST00000408520.1	37	NULL		1																																																																																			0	0		0.453	AL591415.1-201	NOVEL	basic	miRNA	ENSG00000221447	miRNA		34	0	0	0.00	0	0	T		0	0		48086784	-1	no_errors	ENST00000408520	ensembl	human	novel	74_37	rna	21	1	22.22	0.00	6	0	SNP	0.004	C
NBPF14	25832	genome.wustl.edu	37	1	148004583	148004583	+	Missense_Mutation	SNP	G	G	T	rs587730135		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:148004583G>T	ENST00000369219.1	-	22	2747	c.2731C>A	c.(2731-2733)Ctg>Atg	p.L911M				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	911	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGGAACACCAGGTGGAGACTT	0.468																																							0											0													59.0	88.0	78.0					1																	148004583		2126	4259	6385	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2731C>A	1.37:g.148004583G>T	ENSP00000358221:p.Leu911Met		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.L911M	ENST00000369219.1	37	c.2731		1	.	.	.	.	.	.	.	.	.	.	g	8.999	0.979688	0.18812	.	.	ENSG00000122497	ENST00000369219;ENST00000369368	T	0.07444	3.19	0.377	-0.753	0.11068	DUF1220 (1);	.	.	.	.	T	0.06280	0.0162	L	0.53249	1.67	0.09310	N	1	D;D;D	0.62365	0.982;0.991;0.99	P;P;P	0.57679	0.557;0.77;0.825	T	0.15235	-1.0444	8	0.72032	D	0.01	.	.	.	.	.	259;892;911	F8WEX8;B4DH59;Q5TI25	.;.;NBPFE_HUMAN	M	911;259	ENSP00000358221:L911M	ENSP00000358221:L911M	L	-	1	2	NBPF14	146471207	0.976000	0.34144	0.001000	0.08648	0.020000	0.10135	0.775000	0.26689	-0.560000	0.06102	0.271000	0.19318	CTG	0	NULL		0.468	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	protein_coding		317	0	0	0.00	0	0	G	NM_015383	0	0		148004583	-1	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	268	0	7.9	0.00	23	0	SNP	0.001	T
AC009495.4	0	genome.wustl.edu	37	2	166670786	166670786	+	lincRNA	SNP	A	A	G			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:166670786A>G	ENST00000428888.1	-	0	139				AC009495.1_ENST00000408307.1_RNA																							tgtctgtcccatgcaatattt	0.294																																							0											0																																												0																															2.37:g.166670786A>G				RNA	SNP	0	NULL	ENST00000428888.1	37	NULL		2																																																																																			0	0		0.294	AC009495.4-001	KNOWN	basic	lincRNA	ENSG00000221234	lincRNA	OTTHUMT00000333609.1	74	0	0	0.00	0	0	A		0	0		166670786	1	no_errors	ENST00000408307	ensembl	human	novel	74_37	rna	46	0	31.34	0.00	21	0	SNP	0.002	G
UGT2B10	7365	genome.wustl.edu	37	4	69688085	69688085	+	Missense_Mutation	SNP	G	G	A	rs369643682		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr4:69688085G>A	ENST00000265403.7	+	3	991	c.964G>A	c.(964-966)Gta>Ata	p.V322I	UGT2B10_ENST00000458688.2_Missense_Mutation_p.V238I	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	322					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAGGGCCAACGTAATTGCAAC	0.443																																					Melanoma(133;755 1763 25578 26334 46021)		0											0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	164.0	146.0	152.0		712,964	-3.0	0.0	4		152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2B10	NM_001144767.1,NM_001075.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	238/445,322/529	69688085	1,13005	2203	4300	6503	SO:0001583	missense	0			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.964G>A	4.37:g.69688085G>A	ENSP00000265403:p.Val322Ile		A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V322I	ENST00000265403.7	37	c.964		4	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.336431	0.01287	0.0	1.16E-4	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.61158	0.13;3.33	2.55	-2.97	0.05530	.	0.326119	0.28724	U	0.014349	T	0.32585	0.0834	L	0.31065	0.9	0.09310	N	1	B;B	0.21520	0.048;0.057	B;B	0.18263	0.021;0.005	T	0.15037	-1.0451	10	0.16420	T	0.52	.	4.4374	0.11557	0.5107:0.176:0.3133:0.0	.	238;322	B4DPP1;P36537	.;UDB10_HUMAN	I	322;238	ENSP00000265403:V322I;ENSP00000413420:V238I	ENSP00000265403:V322I	V	+	1	0	UGT2B10	69722674	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.898000	0.04105	-0.549000	0.06191	0.184000	0.17185	GTA	0	pfam_UDP_glucos_trans		0.443	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	protein_coding	OTTHUMT00000365169.1	270	0	0.37	0.00	1	0	G	NM_001075	rs369643682	G->A		69688085	1	no_errors	ENST00000265403	ensembl	human	known	74_37	missense	144	0	27.27	0.00	54	0	SNP	0.013	A
PCDHA7	56141	genome.wustl.edu	37	5	140215417	140215417	+	Silent	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr5:140215417C>T	ENST00000525929.1	+	1	1449	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.D483D	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	483	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGCGGACGCGCAGAAGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)		0											0													45.0	49.0	47.0					5																	140215417		2202	4300	6502	SO:0001819	synonymous_variant	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1449C>T	5.37:g.140215417C>T			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D483	ENST00000525929.1	37	c.1449	CCDS54918.1	5																																																																																			0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	104	9	0	0.00	0	0	C	NM_018910	0	0		140215417	1	no_errors	ENST00000525929	ensembl	human	known	74_37	silent	69	5	21.35	0.00	19	0	SNP	0.123	T
ACTB	60	genome.wustl.edu	37	7	5566946	5566946	+	3'UTR	SNP	C	C	A	rs3206243	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr7:5566946C>A	ENST00000331789.5	-	0	1752				ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAAAATAAAACAAAATAAAAA	0.423																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.*433G>T	7.37:g.5566946C>A			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	RNA	SNP	0	NULL	ENST00000331789.5	37	NULL	CCDS5341.1	7																																																																																			0	0		0.423	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	protein_coding	OTTHUMT00000059589.4	58	5	0	0.00	0	0	C	NM_001101	rs3206243	C->A		5566946	-1	no_errors	ENST00000464611	ensembl	human	known	74_37	rna	34	8	12.82	0.00	5	0	SNP	0.251	A
ANKRD20A4	728747	genome.wustl.edu	37	9	69391189	69391189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:69391189C>T	ENST00000357336.3	+	5	978	c.697C>T	c.(697-699)Cga>Tga	p.R233*	RNU6-1193P_ENST00000459461.1_RNA	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	233										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						CATGTGTGGACGAGATGCAGA	0.348																																							0											0																																										SO:0001587	stop_gained	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.697C>T	9.37:g.69391189C>T	ENSP00000349891:p.Arg233*			Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R233*	ENST00000357336.3	37	c.697	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682638	0.68157	.	.	ENSG00000172014	ENST00000357336	.	.	.	1.58	-3.16	0.05217	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	6.0311	0.19681	0.0:0.373:0.0:0.627	.	.	.	.	X	233	.	ENSP00000349891:R233X	R	+	1	2	ANKRD20A4	68681009	0.997000	0.39634	0.005000	0.12908	0.005000	0.04900	0.445000	0.21677	-0.991000	0.03476	-1.206000	0.01644	CGA	0	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.348	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	protein_coding	OTTHUMT00000143287.3	85	0	0	0.00	0	0	C	NM_001098805	0	0		69391189	1	no_errors	ENST00000357336	ensembl	human	known	74_37	nonsense	56	0	16.42	0.00	11	0	SNP	0.009	T
TUBBP5	643224	genome.wustl.edu	37	9	141069844	141069844	+	RNA	SNP	T	T	C	rs62581042		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr9:141069844T>C	ENST00000503395.1	+	0	1053									tubulin, beta pseudogene 5									p.A29A(1)									ATGAACATGCTATCGACTCCG	0.667																																							0											1	Substitution - coding silent(1)	endometrium(1)																																										0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069844T>C				RNA	SNP	0	NULL	ENST00000503395.1	37	NULL		9																																																																																			0	0		0.667	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	pseudogene	OTTHUMT00000373087.1	40	4	2.44	0.00	1	0	T	NR_027156	rs62581042	T->C		141069844	1	no_errors	ENST00000290377	ensembl	human	known	74_37	rna	21	2	22.22	0.00	6	0	SNP	0.991	C
WASH4P	374677	genome.wustl.edu	37	16	62353	62353	+	IGR	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:62353C>T	ENST00000326592.9	-	0	2431				DDX11L10_ENST00000513886.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CTGCAGAAGACGACGGCCGAC	0.622																																							0											0																																										SO:0001628	intergenic_variant	0					16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914		16.37:g.62353C>T				RNA	SNP	0	NULL	ENST00000326592.9	37	NULL		16																																																																																			0	0		0.622	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	DDX11L10	protein_coding	OTTHUMT00000133175.2	28	0	0	0.00	0	0	C	NG_003159	0	0		62353	1	no_errors	ENST00000513886	ensembl	human	known	74_37	rna	8	0	50	0.00	8	0	SNP	1	T
PKD1	5310	genome.wustl.edu	37	16	2168302	2168302	+	Missense_Mutation	SNP	G	G	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:2168302G>T	ENST00000262304.4	-	5	899	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.L231M	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	231	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCACACAGGCACCAGCCC	0.716																																							0											0													2.0	2.0	2.0					16																	2168302		1335	2555	3890	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.691C>A	16.37:g.2168302G>T	ENSP00000262304:p.Leu231Met		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.L231M	ENST00000262304.4	37	c.691	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	8.539	0.872718	0.17322	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.56275	0.47;0.47	4.96	2.54	0.30619	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);Polycystin cation channel (1);	0.000000	0.64402	D	0.000003	T	0.66567	0.2802	M	0.69823	2.125	0.37153	D	0.902252	D;P	0.76494	0.999;0.614	D;B	0.68192	0.956;0.079	T	0.73020	-0.4114	10	0.66056	D	0.02	.	10.2479	0.43352	0.0841:0.2572:0.6586:0.0	.	231;231	P98161-3;P98161	.;PKD1_HUMAN	M	231	ENSP00000262304:L231M;ENSP00000399501:L231M	ENSP00000262304:L231M	L	-	1	2	PKD1	2108303	1.000000	0.71417	0.980000	0.43619	0.062000	0.15995	1.023000	0.30065	1.071000	0.40834	0.444000	0.29173	CTG	0	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat		0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	protein_coding	OTTHUMT00000341688.1	27	0	0	0.00	0	0	G		0	0		2168302	-1	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	14	0	30	0.00	6	0	SNP	0.966	T
NPIPA5	100288332	genome.wustl.edu	37	16	15457863	15457863	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr16:15457863C>T	ENST00000360151.4	-	8	705	c.706G>A	c.(706-708)Gct>Act	p.A236T	NPIPA5_ENST00000543801.1_3'UTR	NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	236																	AAAGTTTCAGCTGTGAGGTAG	0.493																																							0											0																																										SO:0001583	missense	0				CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.706G>A	16.37:g.15457863C>T	ENSP00000433597:p.Ala236Thr		Q0P618	Missense_Mutation	SNP	NULL	p.A236T	ENST00000360151.4	37	c.706	CCDS59264.1	16	.	.	.	.	.	.	.	.	.	.	.	10.49	1.365241	0.24684	.	.	ENSG00000183793	ENST00000360151	T	0.58940	0.3	.	.	.	.	.	.	.	.	T	0.68393	0.2996	M	0.66939	2.045	0.09310	N	1	D	0.71674	0.998	D	0.71870	0.975	T	0.56195	-0.8019	7	0.87932	D	0	.	.	.	.	.	236	E9PKD4	.	T	236	ENSP00000433597:A236T	ENSP00000433597:A236T	A	-	1	0	RP11-82O18.1	15365364	0.008000	0.16893	0.007000	0.13788	0.007000	0.05969	0.153000	0.16323	0.149000	0.19098	0.152000	0.16155	GCT	0	NULL		0.493	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	NPIPA5	protein_coding	OTTHUMT00000389069.1	94	0	0	0.00	0	0	C		0	0		15457863	-1	no_errors	ENST00000360151	ensembl	human	novel	74_37	missense	63	0	7.35	0.00	5	0	SNP	0.007	T
FOXA2	3170	genome.wustl.edu	37	20	22562846	22562846	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:22562846G>A	ENST00000377115.4	-	3	1197	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	FOXA2_ENST00000419308.2_Missense_Mutation_p.P345L	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	339					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTGCCCGGGAGAGGGCGC	0.761																																							0											0													9.0	9.0	9.0					20																	22562846		1944	3700	5644	SO:0001583	missense	0			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1016C>T	20.37:g.22562846G>A	ENSP00000366319:p.Pro339Leu		Q8WUW4|Q96DF7	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P345L	ENST00000377115.4	37	c.1034	CCDS13147.1	20	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501134	0.26861	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.91631	-2.87;-2.87;-2.88	4.29	4.29	0.51040	.	1.057920	0.07563	U	0.917291	D	0.93887	0.8044	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86939	0.2078	10	0.08381	T	0.77	.	16.8871	0.86078	0.0:0.0:1.0:0.0	.	339;345	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	L	339;339;345;225	ENSP00000366319:P339L;ENSP00000400341:P339L;ENSP00000315955:P345L	ENSP00000315955:P345L	P	-	2	0	FOXA2	22510846	1.000000	0.71417	0.894000	0.35097	0.219000	0.24729	6.247000	0.72411	2.352000	0.79861	0.586000	0.80456	CCC	0	NULL		0.761	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	protein_coding	OTTHUMT00000078289.1	19	14	0	0.00	0	0	G		0	0		22562846	-1	no_errors	ENST00000419308	ensembl	human	known	74_37	missense	12	2	25	0.00	4	0	SNP	1	A
MIR663AHG	284801	genome.wustl.edu	37	20	26174050	26174050	+	lincRNA	SNP	G	G	A			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr20:26174050G>A	ENST00000416638.1	+	0	94																											AACACCTGACGAGGCTGCACC	0.468																																							0											0																																												0																															20.37:g.26174050G>A				RNA	SNP	0	NULL	ENST00000416638.1	37	NULL		20																																																																																			0	0		0.468	RP3-410C9.2-001	KNOWN	basic	lincRNA	ENSG00000238129	lincRNA	OTTHUMT00000078485.1	98	1	0	0.00	0	0	G		0	0		26174050	1	no_errors	ENST00000416638	ensembl	human	known	74_37	rna	72	0	30.77	0.00	32	0	SNP	0.332	A
CXorf57	55086	genome.wustl.edu	37	X	105883110	105883110	+	Intron	DEL	T	T	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chrX:105883110delT	ENST00000372548.4	+	9	1843				CXorf57_ENST00000372544.2_Intron|MIR548AN_ENST00000408286.2_RNA	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57								poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ccgcaattccttttgcaccaa	0.338																																							0											0																																										SO:0001627	intron_variant	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1734+193T>-	X.37:g.105883110delT			H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	RNA	DEL	0	NULL	ENST00000372548.4	37	NULL	CCDS14519.1	X																																																																																			0	0		0.338	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR548AN	protein_coding	OTTHUMT00000057800.2	78	0	0	0.00	0	0	T	NM_018015	0	0		105883110	1	no_errors	ENST00000408286	ensembl	human	known	74_37	rna	39	0	26.42	0.00	14	0	DEL	0.046	0
AK5	26289	genome.wustl.edu	37	1	77857130	77857131	+	Intron	INS	-	-	TATG			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:77857130_77857131insTATG	ENST00000354567.2	+	7	1154				AC095030.1_ENST00000408737.1_RNA|AK5_ENST00000344720.5_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						atatacatatatgtgtgtgtat	0.228																																							0											0																																										SO:0001627	intron_variant	0			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.892-19535->TATG	1.37:g.77857130_77857131insTATG			Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	RNA	INS	0	NULL	ENST00000354567.2	37	NULL	CCDS675.1	1																																																																																			0	0		0.228	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221664	protein_coding	OTTHUMT00000026993.4	42	0	0	0.00	0	0	0	NM_174858	0	0		77857131	-1	no_errors	ENST00000408737	ensembl	human	novel	74_37	rna	30	0	14.29	0.00	5	0	INS	0.997:0.995	TATG
LINC01347	731275	genome.wustl.edu	37	1	243202371	243202371	+	lincRNA	DEL	C	C	-	rs199609672|rs371012782	byFrequency	TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr1:243202371delC	ENST00000450226.1	-	0	667																											AAAATCGCTACTTTTTTTTGA	0.323																																							0											0																																												0																															1.37:g.243202371delC				RNA	DEL	0	NULL	ENST00000450226.1	37	NULL		1																																																																																			0	0		0.323	RP11-261C10.2-003	KNOWN	basic	lincRNA	ENSG00000231512	lincRNA	OTTHUMT00000096161.1	21	0	0	0.00	0	0	C		rs371012782	AC->A		243202371	-1	no_errors	ENST00000450226	ensembl	human	known	74_37	rna	17	0	34.62	0.00	9	0	DEL	0.082	0
ANKRD20A8P	729171	genome.wustl.edu	37	2	95483038	95483039	+	RNA	INS	-	-	T			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:95483038_95483039insT	ENST00000432432.2	-	0	1488_1489					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATTCTTCTCTATTTTTTTTGTA	0.277																																							0											0																																												0					2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95483046_95483046dupT			A6NC18	RNA	INS	0	NULL	ENST00000432432.2	37	NULL		2																																																																																			0	0		0.277	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	pseudogene	OTTHUMT00000451404.1	212	0	0	0.00	0	0	0		0	0		95483039	-1	no_errors	ENST00000432432	ensembl	human	known	74_37	rna	109	0	31.87	0.00	51	0	INS	0.185:0.232	T
KLF7	8609	genome.wustl.edu	37	2	207945782	207945783	+	3'UTR	DEL	TA	TA	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr2:207945782_207945783delTA	ENST00000309446.6	-	0	1439_1440				KLF7_ENST00000458272.1_3'UTR|KLF7_ENST00000421199.1_3'UTR|KLF7_ENST00000412414.2_3'UTR|KLF7_ENST00000423015.1_3'UTR|KLF7_ENST00000467833.1_5'UTR	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)						axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		tgagtgtgtgtatatgtgtgtg	0.46																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.*155TA>-	2.37:g.207945784_207945785delTA			B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	RNA	DEL	0	NULL	ENST00000309446.6	37	NULL	CCDS2373.1	2																																																																																			0	0		0.460	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF7	protein_coding	OTTHUMT00000256466.2	34	0	2.86	0.00	1	0	TA	NM_003709	0	0		207945783	-1	no_errors	ENST00000467833	ensembl	human	putative	74_37	rna	23	0	28.12	0.00	9	0	DEL	0.958:0.994	0
KIAA2018	205717	genome.wustl.edu	37	3	113376111	113376119	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-	rs62265537|rs59601191|rs62265538|rs112313093|rs59990801|rs397990842|rs10606566		TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	TGCTGCTGC	TGCTGCTGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr3:113376111_113376119delTGCTGCTGC	ENST00000478658.1	-	5	4427_4435	c.4410_4418delGCAGCAGCA	c.(4408-4419)cagcagcagcaa>caa	p.1470_1473QQQQ>Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_In_Frame_Del_p.1470_1473QQQQ>Q			Q68DE3	K2018_HUMAN	KIAA2018	1470	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ttgttgctgttgctgctgctgctgctgct	0.502																																							0											0																																										SO:0001651	inframe_deletion	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4410_4418delGCAGCAGCA	3.37:g.113376120_113376128delTGCTGCTGC	ENSP00000420721:p.Gln1476_Gln1478del		Q7Z3L9|Q8IVF3|Q9H8T4	In_Frame_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.QQQ1474in_frame_del	ENST00000478658.1	37	c.4418_4410	CCDS43133.1	3																																																																																			0	NULL		0.502	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	protein_coding	OTTHUMT00000354591.1	17	2	5.56	0.00	1	0	TGCTGCTGC	NM_001009899	rs112313093	TTGCTGCTGC->T		113376119	-1	no_errors	ENST00000316407	ensembl	human	known	74_37	in_frame_del	17	3	29.17	0.00	7	0	DEL	0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0
AP001372.2	0	genome.wustl.edu	37	11	74208224	74208224	+	lincRNA	DEL	G	G	-			TCGA-ZB-A966-01A-11D-A428-09	TCGA-ZB-A966-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	644f7f62-e6f1-41e7-a00f-805a9068c9c6	4cfff548-ed75-490e-96f8-6ff3f41ce9d5	g.chr11:74208224delG	ENST00000526036.1	+	0	1139																											ggaagagtatggtgttggaat	0.353																																							0											0													14.0	13.0	14.0					11																	74208224		692	1590	2282			0																															11.37:g.74208224delG				RNA	DEL	0	NULL	ENST00000526036.1	37	NULL		11																																																																																			0	0		0.353	AP001372.2-001	KNOWN	basic	lincRNA	LOC100287896	lincRNA	OTTHUMT00000317865.2	50	0	0	0.00	0	0	G		0	0		74208224	1	no_errors	ENST00000526036	ensembl	human	known	74_37	rna	16	0	11.11	0.00	2	0	DEL	0.254	0
