#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_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_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ACADL	33	genome.wustl.edu	37	2	211053715	211053715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:211053715delC	ENST00000233710.3	-	11	1490	c.1263delG	c.(1261-1263)ctgfs	p.L421fs	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	421					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CTCTTGCAATCAGCTCCTTCA	0.363																																																	0													155.0	155.0	155.0					2																	211053715		2203	4300	6503	SO:0001589	frameshift_variant	0			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.1263delG	2.37:g.211053715delC	ENSP00000233710:p.Leu421fs		B2R8T3|Q8IUN8	Frame_Shift_Del	DEL	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.I422fs	ENST00000233710.3	37	c.1263	CCDS2389.1	2																																																																																			ACADL	-	pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000115361		0.363	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2		0.00	48	0	C	NM_001608		211053715	-1	tier1		no_errors	ENST00000233710	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-
ACKR2	1238	genome.wustl.edu	37	3	42906441	42906441	+	Silent	SNP	T	T	C	rs150917727		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:42906441T>C	ENST00000422265.1	+	3	622	c.447T>C	c.(445-447)gcT>gcC	p.A149A	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.A149A|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.A149A	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	149					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TCGTTCATGCTCAGCCCTACC	0.507																																																	0													99.0	103.0	102.0					3																	42906441		2203	4300	6503	SO:0001819	synonymous_variant	0			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.447T>C	3.37:g.42906441T>C			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.A149	ENST00000422265.1	37	c.447	CCDS2706.1	3																																																																																			ACKR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4	ENSG00000144648		0.507	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACKR2	HGNC	protein_coding	OTTHUMT00000256645.2		0.00	41	0	T	NM_001296		42906441	+1			no_errors	ENST00000273145	ensembl	human	known	74_37	silent	13.33	13	2	SNP	0.800	C
AGBL4	84871	genome.wustl.edu	37	1	49511430	49511430	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:49511430C>T	ENST00000371839.1	-	5	536	c.420G>A	c.(418-420)ccG>ccA	p.P140P	RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371836.1_Silent_p.P140P|AGBL4_ENST00000371838.1_Silent_p.P140P	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	140					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TCCTATGGTCCGGGCAGCGGT	0.398																																																	0													93.0	78.0	83.0					1																	49511430		692	1591	2283	SO:0001819	synonymous_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.420G>A	1.37:g.49511430C>T			B3KT26|B4DG37	Silent	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.P140	ENST00000371839.1	37	c.420	CCDS44137.1	1																																																																																			AGBL4	-	NULL	ENSG00000186094		0.398	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4		0.00	43	0	C	NM_032785		49511430	-1			no_errors	ENST00000371839	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.258	T
ADAR	103	genome.wustl.edu	37	1	154574789	154574789	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:154574789T>C	ENST00000368474.4	-	2	528	c.329A>G	c.(328-330)cAt>cGt	p.H110R	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.H153R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	110					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGTGAAGGATGCTGGAACCC	0.547																																																	0													65.0	67.0	66.0					1																	154574789		2203	4300	6503	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.329A>G	1.37:g.154574789T>C	ENSP00000357459:p.His110Arg		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.H153R	ENST00000368474.4	37	c.458	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	T	0.256	-1.003271	0.02128	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11821	2.74;2.76;2.79	4.0	-8.0	0.01126	.	1.536410	0.03251	N	0.181889	T	0.01592	0.0051	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.32640	-0.9899	10	0.24483	T	0.36	1.1979	1.4482	0.02369	0.2253:0.3152:0.274:0.1854	.	110;110;110	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	R	153;110;105	ENSP00000292205:H153R;ENSP00000357459:H110R;ENSP00000431794:H105R	ENSP00000292205:H153R	H	-	2	0	ADAR	152841413	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.690000	0.01922	-2.434000	0.00554	0.459000	0.35465	CAT	ADAR	-	NULL	ENSG00000160710		0.547	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	-	0.00	61	0	T	NM_001111		154574789	-1	tier1	-	no_errors	ENST00000292205	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.000	C
ALPP	250	genome.wustl.edu	37	2	233245015	233245015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:233245015G>A	ENST00000392027.2	+	6	1046	c.777G>A	c.(775-777)tgG>tgA	p.W259*	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	259					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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)		TGCAGGAATGGCTGGCGAAGC	0.642																																																	0													85.0	86.0	86.0					2																	233245015		2203	4300	6503	SO:0001587	stop_gained	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.777G>A	2.37:g.233245015G>A	ENSP00000375881:p.Trp259*		P05188|P06861|Q53S78|Q96DB7	Nonsense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.W259*	ENST00000392027.2	37	c.777	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	34	5.303256	0.95601	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	2.31	0.28768	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000375881:W259X	W	+	3	0	ALPP	232953259	1.000000	0.71417	0.990000	0.47175	0.365000	0.29674	5.609000	0.67661	1.289000	0.44618	0.298000	0.19748	TGG	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.642	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	-	0.00	148	0	G	NM_001632		233245015	+1	tier1	-	no_errors	ENST00000392027	ensembl	human	known	74_37	nonsense	10.00	90	10	SNP	1.000	A
AMY1A	276	genome.wustl.edu	37	1	104203065	104203066	+	Missense_Mutation	DNP	GC	GC	TT	rs138704923	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:104203065_104203066GC>TT	ENST00000370083.4	+	7	1182_1183	c.962_963GC>TT	c.(961-963)gGC>gTT	p.G321V		NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2	P04745	AMY1_HUMAN	amylase, alpha 1A (salivary)	321					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)						all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CGAGGACATGGCGCTGGAGGAG	0.406																																					Pancreas(131;743 2392 43382 44986)												0																																										SO:0001583	missense	0				CCDS30782.1	1p21	2012-10-02	2007-05-03		ENSG00000237763	ENSG00000237763	3.2.1.1		474	protein-coding gene	gene with protein product		104700	"""amylase, alpha 1A; salivary"""	AMY1			Standard	XM_005270755		Approved		uc001duv.3	P04745	OTTHUMG00000011020	Exception_encountered	1.37:g.104203065_104203066delinsTT	ENSP00000359100:p.Gly321Val		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation|Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.G321V|p.G321	ENST00000370083.4	37	c.962|c.963	CCDS30782.1	1																																																																																			AMY1A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000237763		0.406	AMY1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1A	HGNC	protein_coding	OTTHUMT00000030304.2	-	0.00	215|213	0	G|C	NM_001008221		104203065|104203066	+1	tier1	-|rs138704923	no_errors	ENST00000370083	ensembl	human	known	74_37	missense|silent	11.44|11.39	178|179	23	SNP	0.971|0.311	T
ANKRD26	22852	genome.wustl.edu	37	10	27317825	27317825	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:27317825C>A	ENST00000376087.4	-	27	4093	c.3928G>T	c.(3928-3930)Gac>Tac	p.D1310Y	ANKRD26_ENST00000376070.3_Missense_Mutation_p.D867Y|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1326Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1309					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCAATTTTGTCCATTTGCTTT	0.279																																																	0													111.0	104.0	107.0					10																	27317825		1799	4062	5861	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3928G>T	10.37:g.27317825C>A	ENSP00000365255:p.Asp1310Tyr		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1326Y	ENST00000376087.4	37	c.3976	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	C	4.052	0.007328	0.07866	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.79845	-1.31;-1.31;-1.31	4.9	-2.62	0.06152	.	1.152450	0.06678	U	0.767436	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33135	0.399;0.277;0.244	B;B;B	0.31686	0.134;0.063;0.034	T	0.52668	-0.8545	10	0.62326	D	0.03	.	1.7318	0.02933	0.1339:0.3494:0.1321:0.3847	.	1310;1309;1326	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Y	867;1310;1326	ENSP00000365238:D867Y;ENSP00000365255:D1310Y;ENSP00000405112:D1326Y	ENSP00000365238:D867Y	D	-	1	0	ANKRD26	27357831	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.129000	0.15830	-0.308000	0.08792	0.609000	0.83330	GAC	ANKRD26	-	NULL	ENSG00000107890		0.279	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0.00	29	0	C			27317825	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	A
ASAP2	8853	genome.wustl.edu	37	2	9517087	9517087	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:9517087C>T	ENST00000281419.3	+	18	2137	c.1797C>T	c.(1795-1797)acC>acT	p.T599T	ASAP2_ENST00000315273.4_Silent_p.T599T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	599					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGGATCGAACCTCTCTTCACA	0.453																																																	0													132.0	140.0	137.0					2																	9517087		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1797C>T	2.37:g.9517087C>T			D6W4Y8	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.T599	ENST00000281419.3	37	c.1797	CCDS1661.1	2																																																																																			ASAP2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151693		0.453	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	0.00	49	0	C	NM_003887		9517087	+1	tier1	-	no_errors	ENST00000281419	ensembl	human	known	74_37	silent	33.33	30	15	SNP	0.298	T
ASB2	51676	genome.wustl.edu	37	14	94401050	94401050	+	Silent	SNP	C	C	T	rs370537668		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:94401050C>T	ENST00000315988.4	-	8	2204	c.1716G>A	c.(1714-1716)ccG>ccA	p.P572P	ASB2_ENST00000555019.1_Silent_p.P620P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	572	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.P572P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGCCTGGGAGCGGCAAGGTGT	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)						C	,	0,4406		0,0,2203	105.0	106.0	106.0		1860,1716	-10.3	0.2	14		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ASB2	NM_001202429.1,NM_016150.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	620/636,572/588	94401050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1716G>A	14.37:g.94401050C>T			B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.P572	ENST00000315988.4	37	c.1716	CCDS9915.1	14																																																																																			ASB2	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000100628		0.517	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1		0.00	51	0	C			94401050	-1			no_errors	ENST00000315988	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.007	T
ATP13A3	79572	genome.wustl.edu	37	3	194147972	194147972	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:194147972T>C	ENST00000439040.1	-	29	3748	c.2957A>G	c.(2956-2958)aAt>aGt	p.N986S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.N986S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	986						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCAGGCAGGATTTAAACTCAC	0.358																																																	0													48.0	48.0	48.0					3																	194147972		1814	4068	5882	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2957A>G	3.37:g.194147972T>C	ENSP00000416508:p.Asn986Ser		Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.N986S	ENST00000439040.1	37	c.2957	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	T	18.06	3.540270	0.65085	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.88354	-2.37;-2.37	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	N	0.20328	0.56	0.58432	D	0.999999	P	0.37525	0.598	B	0.40329	0.326	T	0.79351	-0.1839	10	0.11182	T	0.66	-22.1803	15.2446	0.73497	0.0:0.0:0.0:1.0	.	986	Q9H7F0	AT133_HUMAN	S	986	ENSP00000416508:N986S;ENSP00000256031:N986S	ENSP00000256031:N986S	N	-	2	0	ATP13A3	195629261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.998000	0.58463	0.477000	0.44152	AAT	ATP13A3	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000133657		0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	-	0.00	43	0	T	NM_024524		194147972	-1	tier1	-	no_errors	ENST00000256031	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	C
B3GAT1	27087	genome.wustl.edu	37	11	134253770	134253770	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:134253770G>A	ENST00000524765.1	-	3	4969	c.425C>T	c.(424-426)aCg>aTg	p.T142M	B3GAT1_ENST00000537389.1_Missense_Mutation_p.T155M|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Missense_Mutation_p.T142M|B3GAT1_ENST00000392580.1_Missense_Mutation_p.T142M			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTGCAGGTGCGTGTAGTTGAG	0.726																																																	0													30.0	29.0	29.0					11																	134253770		2175	4226	6401	SO:0001583	missense	0			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.425C>T	11.37:g.134253770G>A	ENSP00000433847:p.Thr142Met		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.T155M	ENST00000524765.1	37	c.464	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.083876	0.97267	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88509	0.3088	10	0.59425	D	0.04	-24.5871	19.1576	0.93517	0.0:0.0:1.0:0.0	.	155;142	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	M	142;142;142;155	ENSP00000376359:T142M;ENSP00000307875:T142M;ENSP00000433847:T142M;ENSP00000445983:T155M	ENSP00000307875:T142M	T	-	2	0	B3GAT1	133758980	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.822000	0.99363	2.541000	0.85698	0.561000	0.74099	ACG	B3GAT1	-	pfam_Glyco_trans_43	ENSG00000109956		0.726	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	-	0.00	23	0	G	NM_018644		134253770	-1	tier1	-	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	25.00	66	22	SNP	1.000	A
BCDIN3D	144233	genome.wustl.edu	37	12	50232768	50232768	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:50232768G>T	ENST00000333924.4	-	2	306	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	89	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGTAGGGAGAGGAAGTGTTTG	0.473											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82.0	79.0	80.0					12																	50232768		2203	4300	6503	SO:0001583	missense	0				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.265C>A	12.37:g.50232768G>T	ENSP00000335201:p.Leu89Ile	968	A8K829	Missense_Mutation	SNP	pfam_Bin3	p.L89I	ENST00000333924.4	37	c.265	CCDS8790.1	12	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057511	0.36277	.	.	ENSG00000186666	ENST00000333924	T	0.48201	0.82	5.41	4.46	0.54185	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.259000	0.40064	N	0.001197	T	0.48519	0.1504	M	0.61703	1.905	0.80722	D	1	P	0.52577	0.954	P	0.47206	0.541	T	0.40997	-0.9533	10	0.33141	T	0.24	.	10.88	0.46933	0.0:0.0:0.7045:0.2955	.	89	Q7Z5W3	BN3D2_HUMAN	I	89	ENSP00000335201:L89I	ENSP00000335201:L89I	L	-	1	0	BCDIN3D	48519035	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.976000	0.63785	2.700000	0.92200	0.467000	0.42956	CTC	BCDIN3D	-	NULL	ENSG00000186666		0.473	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCDIN3D	HGNC	protein_coding	OTTHUMT00000405982.1	-	0.00	31	0	G	NM_181708		50232768	-1	tier1	-	no_errors	ENST00000333924	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.995	T
BPTF	2186	genome.wustl.edu	37	17	65850067	65850067	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:65850067C>G	ENST00000321892.4	+	2	686	c.625C>G	c.(625-627)Cca>Gca	p.P209A	BPTF_ENST00000424123.3_Missense_Mutation_p.P70A|BPTF_ENST00000306378.6_Missense_Mutation_p.P209A|BPTF_ENST00000335221.5_Missense_Mutation_p.P209A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	209					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGGCGAAAACCAAGAGTACA	0.393																																																	0													106.0	110.0	108.0					17																	65850067		2203	4300	6503	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.625C>G	17.37:g.65850067C>G	ENSP00000315454:p.Pro209Ala		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P209A	ENST00000321892.4	37	c.625		17	.	.	.	.	.	.	.	.	.	.	C	7.766	0.706476	0.15239	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.80653	-1.4;-1.4;-1.4	5.75	3.69	0.42338	.	.	.	.	.	T	0.62600	0.2441	N	0.12182	0.205	0.41646	D	0.989101	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.0;0.002;0.002	T	0.57470	-0.7806	9	0.02654	T	1	-2.5457	16.1668	0.81768	0.0:0.7477:0.2523:0.0	.	209;209;209	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	A	114;209;209;209;70	ENSP00000307208:P209A;ENSP00000334351:P209A;ENSP00000315454:P209A	ENSP00000307208:P209A	P	+	1	0	BPTF	63280529	0.823000	0.29233	0.998000	0.56505	0.996000	0.88848	1.601000	0.36773	0.709000	0.31976	0.561000	0.74099	CCA	BPTF	-	NULL	ENSG00000171634		0.393	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0.00	71	0	C	NM_182641, NM_004459		65850067	+1			no_errors	ENST00000321892	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.744	G
BRD9	65980	genome.wustl.edu	37	5	884124	884124	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:884124C>T	ENST00000467963.1	-	8	1061	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	BRD9_ENST00000323510.4_Missense_Mutation_p.V203M|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000435709.2_Missense_Mutation_p.V183M|BRD9_ENST00000388890.4_Missense_Mutation_p.V183M|BRD9_ENST00000483173.1_Missense_Mutation_p.V246M	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	299					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGCGCCAGCACGTGCTCCTCT	0.622																																																	0													131.0	100.0	111.0					5																	884124		2203	4300	6503	SO:0001583	missense	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.895G>A	5.37:g.884124C>T	ENSP00000419765:p.Val299Met		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V299M	ENST00000467963.1	37	c.895	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201117	0.79015	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.03	4.16	0.48862	.	0.124363	0.53938	D	0.000043	T	0.66237	0.2769	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;P;P	0.71870	0.975;0.94;0.901;0.901	T	0.68473	-0.5399	10	0.51188	T	0.08	-33.367	13.2681	0.60146	0.0:0.9219:0.0:0.0781	.	246;299;203;183	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	M	203;183;246;299;183;203	ENSP00000323557:V203M;ENSP00000373542:V183M;ENSP00000419845:V246M;ENSP00000419765:V299M;ENSP00000402984:V183M;ENSP00000420722:V203M	ENSP00000323557:V203M	V	-	1	0	BRD9	937124	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	7.030000	0.76484	1.110000	0.41699	0.609000	0.83330	GTG	BRD9	-	pfam_DUF3512	ENSG00000028310		0.622	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	-	0.00	43	0	C	NM_023924		884124	-1	tier1	-	no_errors	ENST00000467963	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	T
C4orf3	401152	genome.wustl.edu	37	4	120225419	120225419	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr4:120225419T>C	ENST00000399075.4	-	1	181	c.182A>G	c.(181-183)aAt>aGt	p.N61S		NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	0						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AAACTTCACATTTAACTTGTC	0.353																																																	0													302.0	242.0	260.0					4																	120225419		692	1591	2283	SO:0001583	missense	0				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000399075.4:c.182A>G	4.37:g.120225419T>C	ENSP00000382026:p.Asn61Ser		Q6J203	Missense_Mutation	SNP	NULL	p.N61S	ENST00000399075.4	37	c.182	CCDS54798.1	4	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213477	0.58452	.	.	ENSG00000164096	ENST00000399075	T	0.35421	1.31	2.87	2.87	0.33458	.	.	.	.	.	T	0.41373	0.1156	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.55897	-0.8068	5	0.87932	D	0	.	7.5661	0.27879	0.0:0.0:0.0:1.0	.	.	.	.	S	61	ENSP00000382026:N61S	ENSP00000382026:N61S	N	-	2	0	C4orf3	120444867	0.060000	0.20803	0.015000	0.15790	0.841000	0.47740	0.508000	0.22692	1.536000	0.49237	0.533000	0.62120	AAT	C4orf3	-	NULL	ENSG00000164096		0.353	C4orf3-002	KNOWN	basic|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364577.2	-	0.00	105	0	T	NM_001001701		120225419	-1	tier1	-	no_errors	ENST00000399075	ensembl	human	known	74_37	missense	10.78	91	11	SNP	0.025	C
CABP4	57010	genome.wustl.edu	37	11	67225884	67225884	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:67225884C>T	ENST00000325656.5	+	5	771	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CTC-1337H24.1_ENST00000602912.1_lincRNA|CABP4_ENST00000438189.2_Missense_Mutation_p.R127W	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	232	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCGGAGCTGCGGGAGGCGGT	0.642																																																	0													58.0	61.0	60.0					11																	67225884		2200	4295	6495	SO:0001583	missense	0			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.694C>T	11.37:g.67225884C>T	ENSP00000324960:p.Arg232Trp		Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R232W	ENST00000325656.5	37	c.694	CCDS8166.1	11	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363664	0.61513	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	T;T	0.35605	1.3;1.3	4.85	3.91	0.45181	EF-hand-like domain (1);	0.071479	0.56097	D	0.000033	T	0.61540	0.2355	M	0.84433	2.695	0.44711	D	0.997706	D;D	0.89917	1.0;1.0	D;P	0.66847	0.947;0.872	T	0.69584	-0.5106	10	0.87932	D	0	-19.634	13.5633	0.61802	0.1573:0.8427:0.0:0.0	.	232;127	P57796;P57796-2	CABP4_HUMAN;.	W	127;232	ENSP00000401555:R127W;ENSP00000324960:R232W	ENSP00000324960:R232W	R	+	1	2	CABP4	66982460	0.912000	0.30974	0.998000	0.56505	0.421000	0.31385	0.839000	0.27586	1.355000	0.45865	0.655000	0.94253	CGG	CABP4	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000175544		0.642	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP4	HGNC	protein_coding	OTTHUMT00000397624.2	-	0.00	31	0	C			67225884	+1	tier1	-	no_errors	ENST00000325656	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	T
CALD1	800	genome.wustl.edu	37	7	134625935	134625935	+	Silent	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:134625935G>A	ENST00000361675.2	+	7	1708	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S	CALD1_ENST00000361388.2_Silent_p.S264S|CALD1_ENST00000424922.1_Silent_p.S232S|CALD1_ENST00000422748.1_Silent_p.S264S|CALD1_ENST00000543443.1_Silent_p.S243S|CALD1_ENST00000361901.2_Silent_p.S238S|CALD1_ENST00000417172.1_Silent_p.S238S|CALD1_ENST00000393118.2_Silent_p.S258S|CALD1_ENST00000495522.1_Silent_p.S258S			Q05682	CALD1_HUMAN	caldesmon 1	493					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.S493S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAGTTAAGTCGCAGAATGGAG	0.348																																																	1	Substitution - coding silent(1)	large_intestine(1)											84.0	78.0	80.0					7																	134625935		2203	4300	6503	SO:0001819	synonymous_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1479G>A	7.37:g.134625935G>A			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.S264	ENST00000361675.2	37	c.792	CCDS5835.1	7																																																																																			CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.348	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1		0.00	34	0	G	NM_033138		134625935	+1			no_errors	ENST00000361388	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.058	A
CCDC124	115098	genome.wustl.edu	37	19	18047332	18047332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:18047332G>T	ENST00000597436.1	+	2	210	c.103G>T	c.(103-105)Gag>Tag	p.E35*	CCDC124_ENST00000445755.2_Nonsense_Mutation_p.E35*	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	35					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GAAGGAGCTGGAGGATGCCTA	0.642																																																	0													61.0	56.0	58.0					19																	18047332		2203	4299	6502	SO:0001587	stop_gained	0			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.103G>T	19.37:g.18047332G>T	ENSP00000471455:p.Glu35*			Nonsense_Mutation	SNP	pfam_DUF1014,superfamily_HMG_box_dom	p.E35*	ENST00000597436.1	37	c.103	CCDS12369.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.306217	0.97458	.	.	ENSG00000007080	ENST00000445755	.	.	.	4.52	4.52	0.55395	.	0.055825	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9211	14.8012	0.69916	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000408730:E35X	E	+	1	0	CCDC124	17908332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.395000	0.97266	2.089000	0.63090	0.555000	0.69702	GAG	CCDC124	-	NULL	ENSG00000007080		0.642	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	-	0.00	27	0	G	NM_138442		18047332	+1	tier1	-	no_errors	ENST00000445755	ensembl	human	known	74_37	nonsense	13.79	25	4	SNP	1.000	T
CCDC106	29903	genome.wustl.edu	37	19	56160635	56160635	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:56160635G>T	ENST00000586790.1	+	2	1000	c.96G>T	c.(94-96)caG>caT	p.Q32H	CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q32H|CCDC106_ENST00000308964.3_Missense_Mutation_p.Q32H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Q32H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	32						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGACCCACAGATCTTTTACA	0.582																																																	0													117.0	115.0	116.0					19																	56160635		2203	4300	6503	SO:0001583	missense	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.96G>T	19.37:g.56160635G>T	ENSP00000465757:p.Gln32His		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.Q32H	ENST00000586790.1	37	c.96	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149192	0.37923	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.5	0.996	0.19844	.	0.253075	0.33813	N	0.004531	T	0.33323	0.0859	L	0.32530	0.975	0.80722	D	1	P	0.47191	0.891	P	0.44990	0.466	T	0.04870	-1.0921	9	0.35671	T	0.21	-12.3307	4.7087	0.12861	0.1297:0.2228:0.6476:0.0	.	32	Q9BWC9	CC106_HUMAN	H	32	.	ENSP00000309681:Q32H	Q	+	3	2	CCDC106	60852447	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.652000	0.24888	0.790000	0.33803	0.561000	0.74099	CAG	CCDC106	-	NULL	ENSG00000173581		0.582	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	-	0.00	80	0	G	NM_013301		56160635	+1	tier1	-	no_errors	ENST00000308964	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.999	T
CHD3	1107	genome.wustl.edu	37	17	7809966	7809966	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:7809966G>A	ENST00000330494.7	+	29	4604	c.4454G>A	c.(4453-4455)cGc>cAc	p.R1485H	CHD3_ENST00000380358.4_Missense_Mutation_p.R1544H|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.R1485H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1485					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGACTGAGTCGCCAGCAGGTG	0.547																																																	0													97.0	94.0	95.0					17																	7809966		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4454G>A	17.37:g.7809966G>A	ENSP00000332628:p.Arg1485His		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1485H	ENST00000330494.7	37	c.4454	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937418	0.73557	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91577	-2.87;-2.82;-2.81	4.85	4.85	0.62838	Domain of unknown function DUF1086 (1);	0.000000	0.45126	D	0.000394	D	0.95303	0.8476	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.997;0.998	D	0.95775	0.8812	10	0.87932	D	0	-14.4148	18.1655	0.89724	0.0:0.0:1.0:0.0	.	61;1485;1485;1544	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	H	1544;1485;1485	ENSP00000369716:R1544H;ENSP00000350907:R1485H;ENSP00000332628:R1485H	ENSP00000332628:R1485H	R	+	2	0	CHD3	7750691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.255000	0.72466	2.515000	0.84797	0.491000	0.48974	CGC	CHD3	-	pfam_DUF1086	ENSG00000170004		0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0.00	49	0	G	NM_001005273		7809966	+1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A
CHRNA4	1137	genome.wustl.edu	37	20	61981585	61981585	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:61981585G>A	ENST00000370263.4	-	5	1399	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	393					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCTCGTGGCAGGGGGCTCCCC	0.682																																																	0													12.0	14.0	13.0					20																	61981585		2194	4282	6476	SO:0001583	missense	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1178C>T	20.37:g.61981585G>A	ENSP00000359285:p.Pro393Leu		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P393L	ENST00000370263.4	37	c.1178	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293320	0.10567	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.85629	-2.01	4.52	-9.04	0.00734	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.366710	0.04154	U	0.321852	T	0.64571	0.2610	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.002;0.009	T	0.54873	-0.8228	10	0.25106	T	0.35	.	9.1305	0.36841	0.0:0.3364:0.4053:0.2583	.	322;393	Q4VAQ5;P43681	.;ACHA4_HUMAN	L	299;393;322	ENSP00000359285:P393L	ENSP00000359280:P299L	P	-	2	0	CHRNA4	61452029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.015000	0.13355	-1.615000	0.01573	-0.175000	0.13238	CCT	CHRNA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000101204		0.682	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3		0.00	12	0	G			61981585	-1			no_errors	ENST00000370263	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.000	A
CLDN19	149461	genome.wustl.edu	37	1	43204241	43204241	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:43204241G>A	ENST00000296387.1	-	2	429	c.239C>T	c.(238-240)gCg>gTg	p.A80V	CLDN19_ENST00000539749.1_Missense_Mutation_p.A80V|CLDN19_ENST00000372539.3_Missense_Mutation_p.A80V	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	80					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGGGCCCGCGCTGATTGGAT	0.652																																																	0													54.0	45.0	48.0					1																	43204241		2203	4300	6503	SO:0001583	missense	0			AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.239C>T	1.37:g.43204241G>A	ENSP00000296387:p.Ala80Val		B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.A80V	ENST00000296387.1	37	c.239	CCDS471.1	1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724337	0.48728	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.86297	-2.1;-2.1;-2.1	5.02	5.02	0.67125	.	0.313877	0.35903	N	0.002910	D	0.88134	0.6355	M	0.62723	1.935	0.09310	N	1	D;B;P	0.54964	0.969;0.446;0.502	P;B;B	0.47891	0.56;0.146;0.327	D	0.83386	0.0015	10	0.59425	D	0.04	.	15.8289	0.78736	0.0:0.0:1.0:0.0	.	80;80;80	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	V	80	ENSP00000296387:A80V;ENSP00000443229:A80V;ENSP00000361617:A80V	ENSP00000296387:A80V	A	-	2	0	CLDN19	42976828	0.890000	0.30428	0.566000	0.28421	0.558000	0.35554	3.984000	0.56923	2.331000	0.79229	0.462000	0.41574	GCG	CLDN19	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000164007		0.652	CLDN19-001	KNOWN	basic|CCDS	protein_coding	CLDN19	HGNC	protein_coding	OTTHUMT00000019788.1		0.00	64	0	G	NM_148960		43204241	-1			no_errors	ENST00000296387	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.087	A
CLEC14A	161198	genome.wustl.edu	37	14	38724771	38724771	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:38724771C>A	ENST00000342213.2	-	1	803	c.457G>T	c.(457-459)Gag>Tag	p.E153*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	153	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTGCGGGCTCGACCCCACCG	0.697																																																	0													34.0	32.0	33.0					14																	38724771		2200	4294	6494	SO:0001587	stop_gained	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.457G>T	14.37:g.38724771C>A	ENSP00000353013:p.Glu153*		Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E153*	ENST00000342213.2	37	c.457	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.995565	0.97990	.	.	ENSG00000176435	ENST00000342213	.	.	.	3.91	3.0	0.34707	.	0.689933	0.11938	U	0.514963	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-12.8608	11.3114	0.49366	0.0:0.8146:0.1854:0.0	.	.	.	.	X	153	.	ENSP00000353013:E153X	E	-	1	0	CLEC14A	37794522	0.795000	0.28851	0.501000	0.27601	0.863000	0.49368	1.831000	0.39141	1.210000	0.43336	0.591000	0.81541	GAG	CLEC14A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000176435		0.697	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0.00	68	0	C	NM_175060		38724771	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	nonsense	11.11	48	6	SNP	0.457	A
CMKLR1	1240	genome.wustl.edu	37	12	108686064	108686064	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:108686064G>A	ENST00000312143.7	-	3	1039	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	CMKLR1_ENST00000412676.1_Missense_Mutation_p.L226F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.L224F|CMKLR1_ENST00000550402.1_Missense_Mutation_p.L226F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.L224F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	226					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAGCCACAGAGGAAGCGGGTG	0.592																																																	0													56.0	60.0	58.0					12																	108686064		2138	4248	6386	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.676C>T	12.37:g.108686064G>A	ENSP00000311733:p.Leu226Phe		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.L226F	ENST00000312143.7	37	c.676	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	12.40	1.926197	0.34002	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.35	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.566997	0.16789	N	0.199447	T	0.67477	0.2897	L	0.46670	1.46	0.29849	N	0.828566	B	0.18610	0.029	B	0.29077	0.098	T	0.64300	-0.6440	10	0.49607	T	0.09	.	7.0095	0.24855	0.1575:0.1435:0.699:0.0	.	226	Q99788	CML1_HUMAN	F	226;226;224;224;226	ENSP00000311733:L226F;ENSP00000401293:L226F;ENSP00000380803:L224F;ENSP00000447579:L224F;ENSP00000449716:L226F	ENSP00000311733:L226F	L	-	1	0	CMKLR1	107210194	0.998000	0.40836	1.000000	0.80357	0.837000	0.47467	0.503000	0.22610	1.268000	0.44264	0.550000	0.68814	CTC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt	ENSG00000174600		0.592	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	-	0.00	52	0	G			108686064	-1	tier1	-	no_errors	ENST00000312143	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.990	A
COG2	22796	genome.wustl.edu	37	1	230822767	230822767	+	Silent	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:230822767A>G	ENST00000366669.4	+	13	1582	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	COG2_ENST00000535166.1_Silent_p.Q373Q|COG2_ENST00000534989.1_Silent_p.Q430Q|COG2_ENST00000546013.1_Silent_p.Q178Q|COG2_ENST00000366668.3_Silent_p.Q489Q	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	489					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCATCACCCAAGGAAACACTG	0.468																																																	0													93.0	77.0	83.0					1																	230822767		2203	4300	6503	SO:0001819	synonymous_variant	0			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1467A>G	1.37:g.230822767A>G			Q86U99	Silent	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.Q489	ENST00000366669.4	37	c.1467	CCDS1584.1	1																																																																																			COG2	-	NULL	ENSG00000135775		0.468	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	-	0.00	38	0	A	NM_007357		230822767	+1	tier1	-	no_errors	ENST00000366669	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.190	G
CTDP1	9150	genome.wustl.edu	37	18	77496418	77496418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:77496418C>T	ENST00000299543.7	+	12	2791	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	CTDP1_ENST00000075430.7_Silent_p.S827S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	882					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCTGAGGAGCAGGAGGAGGA	0.692																																																	0													30.0	35.0	33.0					18																	77496418		1842	3513	5355	SO:0001587	stop_gained	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2644C>T	18.37:g.77496418C>T	ENSP00000299543:p.Gln882*		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Nonsense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.Q882*	ENST00000299543.7	37	c.2644	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.555417	0.96514	.	.	ENSG00000060069	ENST00000299543	.	.	.	3.4	1.5	0.22942	.	0.738721	0.11843	N	0.524072	.	.	.	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-2.3036	5.7952	0.18383	0.0:0.3483:0.5077:0.144	.	.	.	.	X	882	.	ENSP00000299543:Q882X	Q	+	1	0	CTDP1	75597406	1.000000	0.71417	0.004000	0.12327	0.109000	0.19521	0.843000	0.27640	0.094000	0.17404	-0.259000	0.10710	CAG	CTDP1	-	pfam_FCP1_C	ENSG00000060069		0.692	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0.00	44	0	C	NM_004715		77496418	+1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	0.864	T
CTNNA1	1495	genome.wustl.edu	37	5	138221923	138221923	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:138221923A>T	ENST00000302763.7	+	8	1175	c.1085A>T	c.(1084-1086)gAt>gTt	p.D362V	CTNNA1_ENST00000518825.1_Missense_Mutation_p.D362V|CTNNA1_ENST00000540387.1_De_novo_Start_OutOfFrame|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D259V|CTNNA1_ENST00000520400.1_3'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	362	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAAAGAAGTGATGCACTCAAT	0.373																																																	0													136.0	142.0	140.0					5																	138221923		2203	4300	6503	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1085A>T	5.37:g.138221923A>T	ENSP00000304669:p.Asp362Val		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.D362V	ENST00000302763.7	37	c.1085	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609341	0.87258	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.37584	1.19;1.19;1.19	5.82	5.82	0.92795	.	0.047041	0.85682	D	0.000000	T	0.45196	0.1330	M	0.64404	1.975	0.80722	D	1	P;B;B	0.40909	0.732;0.146;0.036	P;B;B	0.45449	0.481;0.219;0.102	T	0.34650	-0.9820	10	0.40728	T	0.16	-19.7981	15.849	0.78912	1.0:0.0:0.0:0.0	.	362;239;362	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	V	259;362;362;347;362	ENSP00000347190:D259V;ENSP00000304669:D362V;ENSP00000427821:D362V	ENSP00000304669:D362V	D	+	2	0	CTNNA1	138249822	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.235000	0.95353	2.225000	0.72522	0.533000	0.62120	GAT	CTNNA1	-	pfam_Vinculin/catenin	ENSG00000044115		0.373	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0.00	64	0	A	NM_001903		138221923	+1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	T
DPCD	25911	genome.wustl.edu	37	10	103354421	103354421	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:103354421G>C	ENST00000370151.4	+	2	120	c.71G>C	c.(70-72)aGg>aCg	p.R24T	DPCD_ENST00000370147.1_Missense_Mutation_p.R24T|DPCD_ENST00000470165.1_3'UTR|DPCD_ENST00000370148.2_Missense_Mutation_p.R24T	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	24					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						ATAGGGAGAAGGAAGGTTCAC	0.507																																																	0													202.0	189.0	193.0					10																	103354421		2203	4300	6503	SO:0001583	missense	0				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.71G>C	10.37:g.103354421G>C	ENSP00000359170:p.Arg24Thr		A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	NULL	p.R24T	ENST00000370151.4	37	c.71	CCDS7514.1	10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329630	0.81690	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148	T;T;T	0.39592	1.07;1.07;1.07	5.62	5.62	0.85841	.	0.044508	0.85682	D	0.000000	T	0.70090	0.3184	M	0.89414	3.03	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.76049	-0.3101	10	0.87932	D	0	-0.2776	18.2197	0.89897	0.0:0.0:1.0:0.0	.	24	Q9BVM2	DPCD_HUMAN	T	24	ENSP00000359170:R24T;ENSP00000359166:R24T;ENSP00000359167:R24T	ENSP00000359166:R24T	R	+	2	0	DPCD	103344411	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.854000	0.75440	2.657000	0.90304	0.491000	0.48974	AGG	DPCD	-	NULL	ENSG00000166171		0.507	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPCD	HGNC	protein_coding	OTTHUMT00000049958.2	-	0.00	110	0	G			103354421	+1	tier1	-	no_errors	ENST00000370151	ensembl	human	known	74_37	missense	17.11	63	13	SNP	1.000	C
DPEP2	64174	genome.wustl.edu	37	16	68023258	68023258	+	Silent	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:68023258G>A	ENST00000572888.1	-	8	1688	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	DPEP2_ENST00000412757.2_Silent_p.I346I|DPEP2_ENST00000393847.1_Silent_p.I346I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	346					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACCAATCCCGATGAACTTGG	0.582																																																	0													149.0	110.0	123.0					16																	68023258		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1038C>T	16.37:g.68023258G>A			B2RCF8|Q6UX92|Q8TC95	Silent	SNP	pfam_Peptidase_M19	p.I346	ENST00000572888.1	37	c.1038	CCDS10857.1	16																																																																																			DPEP2	-	pfam_Peptidase_M19	ENSG00000167261		0.582	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	-	0.00	71	0	G	NM_022355		68023258	-1	tier1	-	no_errors	ENST00000393847	ensembl	human	known	74_37	silent	15.15	56	10	SNP	0.316	A
DTNA	1837	genome.wustl.edu	37	18	32345961	32345961	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:32345961A>G	ENST00000399113.3	+	2	104	c.104A>G	c.(103-105)tAc>tGc	p.Y35C	DTNA_ENST00000348997.5_Missense_Mutation_p.Y35C|DTNA_ENST00000444659.1_Missense_Mutation_p.Y35C|DTNA_ENST00000399121.5_Missense_Mutation_p.Y35C|DTNA_ENST00000598774.1_Missense_Mutation_p.Y35C|DTNA_ENST00000315456.6_Missense_Mutation_p.Y35C|DTNA_ENST00000269190.7_Missense_Mutation_p.Y35C|DTNA_ENST00000597599.1_Missense_Mutation_p.Y35C|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000269191.6_Missense_Mutation_p.Y35C|DTNA_ENST00000554864.3_Missense_Mutation_p.Y35C|DTNA_ENST00000283365.9_Missense_Mutation_p.Y35C|DTNA_ENST00000596745.1_Missense_Mutation_p.Y35C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598334.1_Missense_Mutation_p.Y35C|DTNA_ENST00000598142.1_Missense_Mutation_p.Y35C|DTNA_ENST00000595022.1_Missense_Mutation_p.Y35C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	35	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCTCCACCTACAGAACAGCA	0.403																																																	0													112.0	92.0	98.0					18																	32345961		2203	4300	6503	SO:0001583	missense	0			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.104A>G	18.37:g.32345961A>G	ENSP00000382064:p.Tyr35Cys		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.Y35C	ENST00000399113.3	37	c.104	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137421	0.77775	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.98	4.98	0.66077	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.92750	0.7695	M	0.93638	3.44	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.993;1.0	D	0.94184	0.7434	10	0.87932	D	0	-13.9524	12.4824	0.55852	1.0:0.0:0.0:0.0	.	35;35;35;35;35;35;35;46;35;35;35;35	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	C	35	ENSP00000283365:Y35C;ENSP00000322519:Y35C;ENSP00000269190:Y35C;ENSP00000336682:Y35C;ENSP00000382072:Y35C;ENSP00000405819:Y35C;ENSP00000269191:Y35C;ENSP00000382064:Y35C	ENSP00000269190:Y35C	Y	+	2	0	DTNA	30599959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.096000	0.89537	1.999000	0.58509	0.455000	0.32223	TAC	DTNA	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin	ENSG00000134769		0.403	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2		0.00	33	0	A	NM_001390		32345961	+1			no_errors	ENST00000269190	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	G
EGR4	1961	genome.wustl.edu	37	2	73519305	73519305	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:73519305G>T	ENST00000545030.1	-	2	1124	c.1050C>A	c.(1048-1050)agC>agA	p.S350R	EGR4_ENST00000436467.2_Missense_Mutation_p.S247R	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	350	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|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(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCGCAGGGCAGCTGATGGACA	0.652																																																	0													15.0	18.0	17.0					2																	73519305		2174	4281	6455	SO:0001583	missense	0				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1050C>A	2.37:g.73519305G>T	ENSP00000445626:p.Ser350Arg		B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S350R	ENST00000545030.1	37	c.1050	CCDS1925.2	2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344724	0.61073	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.17528	2.27;2.66	4.58	3.7	0.42460	.	0.142617	0.49305	D	0.000149	T	0.14313	0.0346	L	0.27053	0.805	0.40566	D	0.981256	B;B	0.30914	0.199;0.3	B;B	0.35182	0.097;0.197	T	0.09509	-1.0671	10	0.72032	D	0.01	-11.0754	11.362	0.49648	0.0893:0.0:0.9107:0.0	.	247;350	Q05215;G3V1T5	EGR4_HUMAN;.	R	350;247	ENSP00000445626:S350R;ENSP00000419687:S247R	ENSP00000419687:S247R	S	-	3	2	EGR4	73372813	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.066000	0.41452	1.152000	0.42452	0.561000	0.74099	AGC	EGR4	-	NULL	ENSG00000135625		0.652	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR4	HGNC	protein_coding			0.00	83	0	G	NM_001965		73519305	-1			no_errors	ENST00000545030	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
EIF4E2	9470	genome.wustl.edu	37	2	233431951	233431951	+	Intron	SNP	C	C	T	rs374564717	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:233431951C>T	ENST00000258416.3	+	6	1338				EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409098.1_Intron|EIF4E2_ENST00000409495.1_Missense_Mutation_p.T231M|EIF4E2_ENST00000409167.3_Missense_Mutation_p.T186M|EIF4E2_ENST00000409514.1_Intron|EIF4E2_ENST00000409322.1_Intron	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2						cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	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)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TATGGGAGGACGTGTCCCTAA	0.512													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19908	0.0		0.0	False		,,,				2504	0.0																0								C		10,4396	16.8+/-37.8	0,10,2193	88.0	75.0	79.0			1.8	0.0	2		79	0,8600		0,0,4300	no	intron	EIF4E2	NM_004846.2		0,10,6493	TT,TC,CC		0.0,0.227,0.0769			233431951	10,12996	2203	4300	6503	SO:0001627	intron_variant	0			AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.665+27C>T	2.37:g.233431951C>T			B8ZZJ9|O75349	Missense_Mutation	SNP	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.T231M	ENST00000258416.3	37	c.692	CCDS2496.1	2	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.064086	0.01934	0.00227	0.0	ENSG00000135930	ENST00000409495;ENST00000409167	T;T	0.44881	0.92;0.91	4.54	1.79	0.24919	.	.	.	.	.	T	0.24851	0.0603	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.12837	0.008	T	0.16928	-1.0386	7	.	.	.	.	8.1888	0.31354	0.0:0.7158:0.1841:0.1001	.	186	B4E1E4	.	M	231;186	ENSP00000386876:T231M;ENSP00000387328:T186M	.	T	+	2	0	EIF4E2	233140195	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.108000	0.10857	0.421000	0.25980	-0.961000	0.02630	ACG	EIF4E2	-	NULL	ENSG00000135930		0.512	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E2	HGNC	protein_coding	OTTHUMT00000257033.2		0.00	28	0	C	NM_004846		233431951	+1			no_errors	ENST00000409495	ensembl	human	putative	74_37	missense	6.45	29	2	SNP	0.000	T
CUL9	23113	genome.wustl.edu	37	6	43190859	43190859	+	Intron	SNP	C	C	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:43190859C>A	ENST00000252050.4	+	39	7234				CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Intron|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTTTCTGGTCTTTACCCTGC	0.507																																																	0																																										SO:0001627	intron_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.7151-143C>A	6.37:g.43190859C>A			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	RNA	SNP	-	NULL	ENST00000252050.4	37	NULL	CCDS4890.1	6																																																																																			RP3-330M21.5	-	-	ENSG00000245261		0.507	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245261	Clone_based_vega_gene	protein_coding	OTTHUMT00000040582.2	-	0.00	27	0	C	NM_015089		43190859	-1	tier1	-	no_errors	ENST00000500590	ensembl	human	known	74_37	rna	24.00	19	6	SNP	0.000	A
PCDHA9	9752	genome.wustl.edu	37	5	140242612	140242612	+	Intron	SNP	C	C	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:140242612C>G	ENST00000532602.1	+	1	3427				PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.V122L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						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(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTCGCAACAGCTGCATCT	0.637																																					Melanoma(55;1800 1972 14909)												0																																										SO:0001627	intron_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12138C>G	5.37:g.140242612C>G			O15053|Q2M3S5	Missense_Mutation	SNP	NULL	p.V122L	ENST00000532602.1	37	c.364	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	3.100	-0.185037	0.06340	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.21	3.34	0.38264	.	.	.	.	.	T	0.44932	0.1317	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28396	-1.0045	7	0.27082	T	0.32	.	12.8105	0.57637	0.0:0.319:0.681:0.0	.	122	Q8NB83	.	L	122	.	ENSP00000424817:V122L	V	-	1	0	AC005609.17	140222796	0.177000	0.23109	0.933000	0.37362	0.009000	0.06853	0.171000	0.16685	0.988000	0.38734	-0.702000	0.03669	GTT	AC005609.1	-	NULL	ENSG00000249034		0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249034	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000372896.2	-	0.00	83	0	C	NM_031857		140242612	-1	tier1	-	no_errors	ENST00000502505	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.991	G
EP400	57634	genome.wustl.edu	37	12	132512560	132512560	+	Splice_Site	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:132512560A>G	ENST00000333577.4	+	28	5326		c.e28-1		EP400_ENST00000330386.6_Splice_Site|EP400_ENST00000389561.2_Splice_Site|EP400_ENST00000332482.4_Splice_Site|EP400_ENST00000389562.2_Splice_Site			Q96L91	EP400_HUMAN	E1A binding protein p400						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)		TTTTTGATAAAGGAGGAAAAG	0.453																																																	0													30.0	33.0	32.0					12																	132512560		2203	4300	6503	SO:0001630	splice_region_variant	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.5218-1A>G	12.37:g.132512560A>G			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Splice_Site	SNP	-	e27-2	ENST00000333577.4	37	c.5218-2		12	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319461	0.23994	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5828	0.56399	0.8758:0.0:0.0:0.1242	.	.	.	.	.	-1	.	.	.	+	.	.	EP400	131078513	0.998000	0.40836	0.716000	0.30569	0.159000	0.22180	4.823000	0.62694	2.326000	0.78906	0.533000	0.62120	.	EP400	-	-	ENSG00000183495		0.453	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0.00	57	0	A	NM_015409	Intron	132512560	+1			no_errors	ENST00000333577	ensembl	human	known	74_37	splice_site	6.98	40	3	SNP	0.963	G
EPS15	2060	genome.wustl.edu	37	1	51906102	51906102	+	Silent	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:51906102G>A	ENST00000371733.3	-	12	1053	c.957C>T	c.(955-957)aaC>aaT	p.N319N	EPS15_ENST00000371730.2_Silent_p.N319N	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	319	Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATCCTATGATGTTCTAAAAAC	0.284			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											75.0	74.0	74.0					1																	51906102		2202	4300	6502	SO:0001819	synonymous_variant	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.957C>T	1.37:g.51906102G>A			B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.N319	ENST00000371733.3	37	c.957	CCDS557.1	1																																																																																			EPS15	-	NULL	ENSG00000085832		0.284	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1		0.00	39	0	G	NM_001981		51906102	-1			no_errors	ENST00000371733	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.442	A
OTULIN	90268	genome.wustl.edu	37	5	14693028	14693028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:14693028C>A	ENST00000284274.4	+	7	1008	c.930C>A	c.(928-930)taC>taA	p.Y310*		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		310	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCTCCAAGTACAACACGGAAG	0.532																																																	0													134.0	137.0	136.0					5																	14693028		2060	4210	6270	SO:0001587	stop_gained	0																														ENST00000284274.4:c.930C>A	5.37:g.14693028C>A	ENSP00000284274:p.Tyr310*		D3DTD3|Q8NAS0|Q96IA3	Nonsense_Mutation	SNP	prints_FAM105,prints_FAM105B,prints_FAM105A	p.Y310*	ENST00000284274.4	37	c.930	CCDS43302.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.064940|5.064940	0.93898|0.93898	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000506417|ENST00000284274	.|.	.|.	.|.	5.73|5.73	1.38|1.38	0.22167|0.22167	.|.	.|0.327243	.|0.34002	.|N	.|0.004351	T|.	0.29158|.	0.0725|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18209|.	-1.0344|.	4|.	.|0.02654	.|T	.|1	-9.4627|-9.4627	9.7097|9.7097	0.40238|0.40238	0.0:0.505:0.0:0.495|0.0:0.505:0.0:0.495	.|.	.|.	.|.	.|.	K|X	42|310	.|.	.|ENSP00000284274:Y310X	Q|Y	+|+	1|3	0|2	FAM105B|FAM105B	14746028|14746028	0.764000|0.764000	0.28473|0.28473	0.889000|0.889000	0.34880|0.34880	0.918000|0.918000	0.54935|0.54935	-0.058000|-0.058000	0.11750|0.11750	-0.042000|-0.042000	0.13535|0.13535	0.655000|0.655000	0.94253|0.94253	CAA|TAC	FAM105B	-	prints_FAM105	ENSG00000154124		0.532	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	HGNC	protein_coding	OTTHUMT00000366012.1	-	0.00	68	0	C			14693028	+1	tier1	-	no_errors	ENST00000284274	ensembl	human	known	74_37	nonsense	32.04	70	33	SNP	0.977	A
FAM230B	642633	genome.wustl.edu	37	22	21538079	21538079	+	RNA	SNP	A	A	G	rs62240903		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr22:21538079A>G	ENST00000451257.1	+	0	1065									family with sequence similarity 230, member B (non-protein coding)																		GGCATCGCCAACGAGGACGCC	0.746																																																	0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538079A>G				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			FAM230B	-	-	ENSG00000215498		0.746	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	HGNC	processed_transcript	OTTHUMT00000320063.1		0.00	31	0	A	NR_108107		21538079	+1			no_errors	ENST00000451257	ensembl	human	known	74_37	rna	6.92	148	11	SNP	0.000	G
FAM45A	404636	genome.wustl.edu	37	10	120897154	120897154	+	IGR	SNP	T	T	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:120897154T>A	ENST00000361432.2	+	0	1648				FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ATATTGACTGTAAAGGATTAT	0.308																																																	0																																										SO:0001628	intergenic_variant	0			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143		10.37:g.120897154T>A			B1AMV6|B4DDC3|D3DRC8|Q9NXW4	RNA	SNP	-	NULL	ENST00000361432.2	37	NULL	CCDS7609.1	10																																																																																			FAM45A	-	-	ENSG00000119979		0.308	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1	-	0.00	27	0	T	NM_207009		120897154	+1	tier1	-	no_errors	ENST00000489988	ensembl	human	known	74_37	rna	16.28	36	7	SNP	0.000	A
FAM84A	151354	genome.wustl.edu	37	2	14775237	14775237	+	3'UTR	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:14775237G>T	ENST00000295092.2	+	0	1422				FAM84A_ENST00000497769.1_3'UTR|FAM84A_ENST00000331243.4_3'UTR|AC011897.1_ENST00000581929.1_5'UTR	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A											endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACGGTGCTGGGAGACCCCGCG	0.672																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.*255G>T	2.37:g.14775237G>T			A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	RNA	SNP	-	NULL	ENST00000295092.2	37	NULL	CCDS1684.1	2	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245716	0.22796	.	.	ENSG00000162981	ENST00000359969	.	.	.	3.81	0.75	0.18387	.	0.731310	0.12710	N	0.445575	T	0.36441	0.0967	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36383	-0.9750	6	0.87932	D	0	-1.0429	3.2028	0.06655	0.1023:0.1603:0.5438:0.1935	.	.	.	.	V	323	.	ENSP00000353054:G323V	G	+	2	0	FAM84A	14692688	0.001000	0.12720	0.001000	0.08648	0.088000	0.18126	0.187000	0.16998	0.023000	0.15187	-0.305000	0.09177	GGA	FAM84A	-	-	ENSG00000162981		0.672	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84A	HGNC	protein_coding	OTTHUMT00000239308.2	-	0.00	43	0	G	NM_145175		14775237	+1	tier1	-	no_errors	ENST00000497769	ensembl	human	known	74_37	rna	9.52	38	4	SNP	0.001	T
FGF14	2259	genome.wustl.edu	37	13	102568817	102568817	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr13:102568817C>G	ENST00000376143.4	-	1	178	c.179G>C	c.(178-180)aGg>aCg	p.R60T	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	60					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCGCCGCAACCTGCGCTTCTT	0.657																																																	0													45.0	46.0	46.0					13																	102568817		2203	4300	6503	SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.179G>C	13.37:g.102568817C>G	ENSP00000365313:p.Arg60Thr		Q86YN7|Q96QX6	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.R60T	ENST00000376143.4	37	c.179	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310621	0.23821	.	.	ENSG00000102466	ENST00000376143	T	0.78246	-1.16	5.36	3.61	0.41365	.	.	.	.	.	T	0.68705	0.3030	L	0.33485	1.01	0.31082	N	0.7118	B	0.11235	0.004	B	0.09377	0.004	T	0.63184	-0.6694	9	0.34782	T	0.22	.	14.5165	0.67824	0.2676:0.7324:0.0:0.0	.	60	Q92915	FGF14_HUMAN	T	60	ENSP00000365313:R60T	ENSP00000365313:R60T	R	-	2	0	FGF14	101366818	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	5.523000	0.67099	0.613000	0.30089	-0.311000	0.09066	AGG	FGF14	-	NULL	ENSG00000102466		0.657	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0.00	64	0	C			102568817	-1	tier1	-	no_errors	ENST00000376143	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	G
FGFR2	2263	genome.wustl.edu	37	10	123243225	123243225	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:123243225A>G	ENST00000358487.5	-	17	2560	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	FGFR2_ENST00000360144.3_Missense_Mutation_p.L675P|FGFR2_ENST00000457416.2_Missense_Mutation_p.L764P|FGFR2_ENST00000351936.6_Missense_Mutation_p.L761P|FGFR2_ENST00000356226.4_Missense_Mutation_p.L646P|FGFR2_ENST00000369060.4_Missense_Mutation_p.L647P|FGFR2_ENST00000357555.5_Missense_Mutation_p.L674P|FGFR2_ENST00000478859.1_Missense_Mutation_p.L535P|FGFR2_ENST00000369056.1_Missense_Mutation_p.L764P|FGFR2_ENST00000369061.4_Missense_Mutation_p.L651P|FGFR2_ENST00000369059.1_Missense_Mutation_p.L649P|FGFR2_ENST00000346997.2_Missense_Mutation_p.L761P	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	763	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.L763fs*4(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATTGGTTGTGAGAGTGAGAAT	0.488		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	1	Deletion - Frameshift(1)	endometrium(1)											148.0	129.0	136.0					10																	123243225		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2288T>C	10.37:g.123243225A>G	ENSP00000351276:p.Leu763Pro		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_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.L764P	ENST00000358487.5	37	c.2291	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607400	0.87157	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058	T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.31;-1.36;-1.31;-1.28;-1.37;-1.28;-1.31;-1.31;-1.31;-1.29;-1.3;-1.3	5.37	5.37	0.77165	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	L	0.35542	1.07	0.80722	D	1	P;P;P;P;P;P;P;P	0.49447	0.552;0.68;0.924;0.849;0.717;0.545;0.89;0.853	B;B;P;P;B;B;B;B	0.47376	0.124;0.345;0.545;0.526;0.258;0.345;0.443;0.443	T	0.81506	-0.0902	10	0.87932	D	0	.	15.6642	0.77213	1.0:0.0:0.0:0.0	.	780;762;674;646;763;675;764;666	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	P	674;764;651;763;646;647;649;761;764;761;675;764;764	ENSP00000350166:L674P;ENSP00000358057:L651P;ENSP00000351276:L763P;ENSP00000348559:L646P;ENSP00000358056:L647P;ENSP00000358055:L649P;ENSP00000263451:L761P;ENSP00000410294:L764P;ENSP00000309878:L761P;ENSP00000353262:L675P;ENSP00000358052:L764P;ENSP00000358054:L764P	ENSP00000263451:L761P	L	-	2	0	FGFR2	123233215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.198000	0.94994	2.141000	0.66446	0.533000	0.62120	CTC	FGFR2	-	pirsf_FGF_rcpt_fam,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000066468		0.488	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1		0.00	60	0	A	NM_022976, NM_000141		123243225	-1			no_errors	ENST00000457416	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G
FLG	2312	genome.wustl.edu	37	1	152277667	152277667	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:152277667G>A	ENST00000368799.1	-	3	9730	c.9695C>T	c.(9694-9696)tCt>tTt	p.S3232F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3232	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)			AGCAGACCCAGACCACCTCTC	0.592									Ichthyosis																																								0													158.0	172.0	167.0					1																	152277667		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.9695C>T	1.37:g.152277667G>A	ENSP00000357789:p.Ser3232Phe		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S3232F	ENST00000368799.1	37	c.9695	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.008004	0.19199	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03801	3.8	3.29	-0.628	0.11537	.	.	.	.	.	T	0.06462	0.0166	M	0.76574	2.34	0.09310	N	1	D	0.61697	0.99	D	0.71656	0.974	T	0.16188	-1.0411	9	0.87932	D	0	.	2.8952	0.05688	0.2441:0.0:0.4614:0.2945	.	3232	P20930	FILA_HUMAN	F	3232;170	ENSP00000357789:S3232F	ENSP00000357786:S170F	S	-	2	0	FLG	150544291	0.007000	0.16637	0.000000	0.03702	0.019000	0.09904	0.147000	0.16202	-0.270000	0.09285	0.449000	0.29647	TCT	FLG	-	NULL	ENSG00000143631		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	135	0	G	NM_002016		152277667	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	14.06	110	18	SNP	0.000	A
GALNT16	57452	genome.wustl.edu	37	14	69805402	69805402	+	Silent	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:69805402T>C	ENST00000337827.4	+	10	1329	c.1002T>C	c.(1000-1002)agT>agC	p.S334S	GALNT16_ENST00000553669.1_Silent_p.S334S|GALNT16_ENST00000448469.3_Silent_p.S334S	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	334	Catalytic subdomain B.				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)										GTGGTGGCAGTCTGGAGATCG	0.587																																																	0													149.0	122.0	131.0					14																	69805402		2203	4300	6503	SO:0001819	synonymous_variant	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.1002T>C	14.37:g.69805402T>C			Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S334	ENST00000337827.4	37	c.1002	CCDS32107.1	14																																																																																			GALNT16	-	NULL	ENSG00000100626		0.587	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	HGNC	protein_coding	OTTHUMT00000412434.1	-	0.00	111	0	T	NM_001168368		69805402	+1	tier1	-	no_errors	ENST00000337827	ensembl	human	known	74_37	silent	12.50	84	12	SNP	1.000	C
GBP6	163351	genome.wustl.edu	37	1	89843995	89843995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:89843995G>T	ENST00000370456.4	+	5	541	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	GBP6_ENST00000535065.1_Nonsense_Mutation_p.E20*	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	150	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGAGCTCACAGAACTAATTAA	0.398																																																	0													111.0	119.0	116.0					1																	89843995		2203	4300	6503	SO:0001587	stop_gained	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.448G>T	1.37:g.89843995G>T	ENSP00000359485:p.Glu150*		A2RRM3|Q6ZN86|Q7Z3F0	Nonsense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.E150*	ENST00000370456.4	37	c.448	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129221	0.56721	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	.	.	.	4.97	2.07	0.26955	.	0.129368	0.49305	D	0.000145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-9.281	8.6619	0.34097	0.2561:0.0:0.7439:0.0	.	.	.	.	X	121;150;20	.	ENSP00000359485:E150X	E	+	1	0	GBP6	89616583	0.991000	0.36638	0.269000	0.24586	0.058000	0.15608	1.556000	0.36288	0.156000	0.19299	0.585000	0.79938	GAA	GBP6	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000183347		0.398	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1		0.00	27	0	G	NM_198460		89843995	+1			no_errors	ENST00000370456	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.990	T
GDF11	10220	genome.wustl.edu	37	12	56143474	56143474	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:56143474G>C	ENST00000257868.5	+	3	1069	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	344					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCTCCGGCCAGTGCGAGTACA	0.562																																																	0													159.0	147.0	151.0					12																	56143474		2203	4300	6503	SO:0001583	missense	0			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.1032G>C	12.37:g.56143474G>C	ENSP00000257868:p.Gln344His		Q9UID1|Q9UID2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.Q344H	ENST00000257868.5	37	c.1032	CCDS8891.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.25|10.25	1.298572|1.298572	0.23650|0.23650	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	D|.	0.84223|.	-1.82|.	5.06|5.06	2.26|2.26	0.28386|0.28386	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40473|0.40473	0.1118|0.1118	N|N	0.21194|0.21194	0.64|0.64	0.53005|0.53005	D|D	0.999965|0.999965	B|.	0.31413|.	0.322|.	B|.	0.40329|.	0.326|.	T|T	0.07347|0.07347	-1.0777|-1.0777	10|5	0.87932|.	D|.	0|.	-14.6387|-14.6387	9.12|9.12	0.36782|0.36782	0.2441:0.0:0.7559:0.0|0.2441:0.0:0.7559:0.0	.|.	344|.	O95390|.	GDF11_HUMAN|.	H|T	344|317	ENSP00000257868:Q344H|.	ENSP00000257868:Q344H|.	Q|S	+|+	3|2	2|0	GDF11|GDF11	54429741|54429741	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	0.156000|0.156000	0.16382|0.16382	0.280000|0.280000	0.22209|0.22209	-0.997000|-0.997000	0.02515|0.02515	CAG|AGT	GDF11	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000135414		0.562	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF11	HGNC	protein_coding	OTTHUMT00000407842.3	-	0.00	49	0	G			56143474	+1	tier1	-	no_errors	ENST00000257868	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	C
GID4	79018	genome.wustl.edu	37	17	17957538	17957538	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:17957538G>T	ENST00000268719.4	+	3	769	c.596G>T	c.(595-597)cGg>cTg	p.R199L	GID4_ENST00000376345.3_Missense_Mutation_p.R199L	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	199																	GATGTTGATCGGAAACACTGG	0.453																																																	0													111.0	104.0	106.0					17																	17957538		2203	4300	6503	SO:0001583	missense	0			AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.596G>T	17.37:g.17957538G>T	ENSP00000268719:p.Arg199Leu		Q8TEB5|Q9BW50	Missense_Mutation	SNP	pfam_Vacuolar_import/degrad_Vid24	p.R199L	ENST00000268719.4	37	c.596	CCDS11190.1	17	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691380	0.30052	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	6.06	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	N	0.04275	-0.24	0.80722	D	1	P	0.41159	0.74	B	0.36567	0.228	T	0.24977	-1.0145	9	0.02654	T	1	-7.9843	15.7739	0.78193	0.066:0.0:0.934:0.0	.	199	Q8IVV7	CQ039_HUMAN	L	199;116	.	ENSP00000268719:R199L	R	+	2	0	C17orf39	17898263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.514000	0.67043	2.879000	0.98667	0.650000	0.86243	CGG	GID4	-	pfam_Vacuolar_import/degrad_Vid24	ENSG00000141034		0.453	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID4	HGNC	protein_coding	OTTHUMT00000132071.2		0.00	78	0	G	NM_024052		17957538	+1			no_errors	ENST00000268719	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
GGNBP2	79893	genome.wustl.edu	37	17	34923570	34923570	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:34923570C>T	ENST00000304718.4	+	6	912	c.596C>T	c.(595-597)tCg>tTg	p.S199L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTAATTGACTCGAGTTGTCTT	0.393																																																	0													167.0	156.0	160.0					17																	34923570		2203	4300	6503	SO:0001583	missense	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.596C>T	17.37:g.34923570C>T	ENSP00000307617:p.Ser199Leu		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.S199L	ENST00000304718.4	37	c.596	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443233	0.83993	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	0.104471	0.64402	D	0.000004	T	0.65270	0.2675	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.995;0.976	P;B	0.51866	0.682;0.411	T	0.68078	-0.5504	9	0.66056	D	0.02	-13.1107	19.4017	0.94632	0.0:1.0:0.0:0.0	.	199;199	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	L	199	.	ENSP00000307617:S199L	S	+	2	0	GGNBP2	31997683	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	5.636000	0.67848	2.577000	0.86979	0.558000	0.71614	TCG	GGNBP2	-	NULL	ENSG00000005955		0.393	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0.00	88	0	C	NM_024835		34923570	+1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	13.95	74	12	SNP	0.941	T
GMFG	9535	genome.wustl.edu	37	19	39826162	39826162	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:39826162G>T	ENST00000597595.1	-	2	221	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	GMFG_ENST00000601387.1_Intron|GMFG_ENST00000600322.1_De_novo_Start_InFrame|GMFG_ENST00000598034.1_Missense_Mutation_p.L5M|GMFG_ENST00000595636.1_Missense_Mutation_p.L5M|GMFG_ENST00000594700.1_Missense_Mutation_p.L5M|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000253054.8_De_novo_Start_InFrame	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	5	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACACCACCAGGGAGTCAGAC	0.532																																																	0													99.0	82.0	88.0					19																	39826162		2203	4300	6503	SO:0001583	missense	0			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.13C>A	19.37:g.39826162G>T	ENSP00000472249:p.Leu5Met		Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.L5M	ENST00000597595.1	37	c.13	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231641	0.58777	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.18	1.9	0.25705	Actin-binding, cofilin/tropomyosin type (1);	0.000000	0.47852	D	0.000218	T	0.71022	0.3291	M	0.81942	2.565	0.39669	D	0.970731	D;D	0.71674	0.995;0.998	D;D	0.80764	0.969;0.994	T	0.70644	-0.4815	9	0.41790	T	0.15	-22.6085	7.5918	0.28025	0.2385:0.0:0.7615:0.0	.	5;5	O60234;Q6IB37	GMFG_HUMAN;.	M	5	.	ENSP00000253054:L5M	L	-	1	2	GMFG	44518002	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.286000	0.43496	0.969000	0.38237	-0.258000	0.10820	CTG	GMFG	-	pirsf_GMF-beta	ENSG00000130755		0.532	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	-	0.00	71	0	G			39826162	-1	tier1	-	no_errors	ENST00000597595	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	T
GOSR2	9570	genome.wustl.edu	37	17	45008544	45008544	+	Missense_Mutation	SNP	G	G	T	rs535191147		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:45008544G>T	ENST00000393456.2	+	3	231	c.174G>T	c.(172-174)gaG>gaT	p.E58D	RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.E58D|GOSR2_ENST00000576910.2_Missense_Mutation_p.E58D|GOSR2_ENST00000439730.2_Missense_Mutation_p.E58D|GOSR2_ENST00000575949.1_Missense_Mutation_p.E58D|GOSR2_ENST00000415811.2_Missense_Mutation_p.E58D|GOSR2_ENST00000225567.4_Missense_Mutation_p.E58D	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	58					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.E58D(2)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CCAGCAAGGAGCCCCCTAACA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16957	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	liver(2)											67.0	70.0	69.0					17																	45008544		2203	4300	6503	SO:0001583	missense	0			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.174G>T	17.37:g.45008544G>T	ENSP00000377101:p.Glu58Asp		D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	superfamily_t-SNARE	p.E58D	ENST00000393456.2	37	c.174	CCDS42355.1	17	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412220	0.62511	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.70749	-0.51;-0.46;-0.45;1.97	5.66	0.967	0.19674	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.72894	2.215	0.58432	D	0.999998	P;D;P;D	0.89917	0.927;0.984;0.956;1.0	P;P;P;D	0.87578	0.788;0.669;0.823;0.998	T	0.75178	-0.3409	10	0.34782	T	0.22	-31.5537	10.4444	0.44486	0.3975:0.0:0.6025:0.0	.	58;58;58;58	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	D	58	ENSP00000225567:E58D;ENSP00000377101:E58D;ENSP00000394559:E58D;ENSP00000390577:E58D	ENSP00000225567:E58D	E	+	3	2	GOSR2	42363543	0.998000	0.40836	0.999000	0.59377	0.999000	0.98932	0.567000	0.23608	0.093000	0.17368	0.655000	0.94253	GAG	GOSR2	-	superfamily_t-SNARE	ENSG00000108433		0.468	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GOSR2	HGNC	protein_coding	OTTHUMT00000440438.1		0.00	26	0	G			45008544	+1			no_errors	ENST00000439730	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.997	T
GPR141	353345	genome.wustl.edu	37	7	37780568	37780568	+	Silent	SNP	C	C	A	rs189762711		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:37780568C>A	ENST00000447769.1	+	4	862	c.573C>A	c.(571-573)gcC>gcA	p.A191A	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.A191A|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTCATAGCCGTTGCTGTGA	0.408																																																	0													190.0	172.0	178.0					7																	37780568		2203	4300	6503	SO:0001819	synonymous_variant	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.573C>A	7.37:g.37780568C>A			A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A191	ENST00000447769.1	37	c.573	CCDS5451.1	7																																																																																			GPR141	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187037		0.408	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	-	0.00	101	0	C	NM_181791		37780568	+1	tier1	-	no_errors	ENST00000334425	ensembl	human	known	74_37	silent	9.80	92	10	SNP	0.014	A
GRIA1	2890	genome.wustl.edu	37	5	153085558	153085558	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:153085558T>A	ENST00000285900.5	+	11	2097	c.1754T>A	c.(1753-1755)tTt>tAt	p.F585Y	GRIA1_ENST00000340592.5_Missense_Mutation_p.F585Y|GRIA1_ENST00000521843.2_Missense_Mutation_p.F516Y|GRIA1_ENST00000448073.4_Missense_Mutation_p.F595Y|GRIA1_ENST00000518783.1_Missense_Mutation_p.F595Y|GRIA1_ENST00000518142.1_Missense_Mutation_p.F505Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	585					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.F585Y(2)|p.F585C(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCCAATGAGTTTGGGATATTC	0.507																																																	3	Substitution - Missense(3)	liver(2)|large_intestine(1)											142.0	126.0	131.0					5																	153085558		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1754T>A	5.37:g.153085558T>A	ENSP00000285900:p.Phe585Tyr		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F595Y	ENST00000285900.5	37	c.1784	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	27.8	4.866445	0.91511	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;D;T;T;T	0.97378	1.91;1.91;1.91;-4.36;1.91;1.91;1.91	5.06	5.06	0.68205	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D	0.76494	0.984;0.984;0.998;0.984;0.981;0.999	P;P;D;P;P;D	0.79784	0.78;0.78;0.993;0.78;0.591;0.986	D	0.99198	1.0872	10	0.87932	D	0	.	14.2848	0.66240	0.0:0.0:0.0:1.0	.	595;595;505;595;585;585	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	Y	585;585;505;539;585;516;516;595;595	ENSP00000285900:F585Y;ENSP00000427920:F505Y;ENSP00000339343:F585Y;ENSP00000427864:F516Y;ENSP00000442108:F516Y;ENSP00000428994:F595Y;ENSP00000415569:F595Y	ENSP00000285900:F585Y	F	+	2	0	GRIA1	153065751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.859000	0.86982	2.020000	0.59435	0.533000	0.62120	TTT	GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000155511		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0.00	45	0	T			153085558	+1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
HIST1H3B	8358	genome.wustl.edu	37	6	26032006	26032006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:26032006C>A	ENST00000244661.2	-	1	282	c.283G>T	c.(283-285)Gag>Tag	p.E95*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	95					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TCACAAGCCTCCTGCAGCGCC	0.562																																																	0													72.0	73.0	73.0					6																	26032006		2203	4300	6503	SO:0001587	stop_gained	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.283G>T	6.37:g.26032006C>A	ENSP00000244661:p.Glu95*		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E95*	ENST00000244661.2	37	c.283	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	15.22	2.767842	0.49680	.	.	ENSG00000124693	ENST00000244661	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7852	0.88535	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000244661:E95X	E	-	1	0	HIST1H3B	26139985	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	7.492000	0.81482	2.487000	0.83934	0.561000	0.74099	GAG	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.562	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	-	0.00	95	0	C	NM_003537		26032006	-1	tier1	-	no_errors	ENST00000244661	ensembl	human	known	74_37	nonsense	13.59	89	14	SNP	1.000	A
HIST1H2BH	8345	genome.wustl.edu	37	6	26251922	26251922	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:26251922C>G	ENST00000356350.2	+	1	44	c.44C>G	c.(43-45)tCc>tGc	p.S15C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	15					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AAGAAGGGCTCCAAGAAGGCG	0.527																																																	0													100.0	91.0	94.0					6																	26251922		2203	4300	6503	SO:0001583	missense	0			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.44C>G	6.37:g.26251922C>G	ENSP00000348706:p.Ser15Cys		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S15C	ENST00000356350.2	37	c.44	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	14.29	2.492496	0.44352	.	.	ENSG00000197459	ENST00000356350	T	0.22945	1.93	4.74	4.74	0.60224	Histone-fold (2);	.	.	.	.	T	0.26195	0.0639	M	0.86502	2.82	0.41757	D	0.989698	B	0.26809	0.16	B	0.17979	0.02	T	0.28459	-1.0043	9	0.87932	D	0	.	17.5947	0.88007	0.0:1.0:0.0:0.0	.	15	Q93079	H2B1H_HUMAN	C	15	ENSP00000348706:S15C	ENSP00000348706:S15C	S	+	2	0	HIST1H2BH	26359901	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	7.512000	0.81728	2.561000	0.86390	0.655000	0.94253	TCC	HIST1H2BH	-	superfamily_Histone-fold	ENSG00000197459		0.527	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	-	0.00	148	0	C	NM_003524		26251922	+1	tier1	-	no_errors	ENST00000356350	ensembl	human	known	74_37	missense	10.66	109	13	SNP	1.000	G
HIST2H3PS2	440686	genome.wustl.edu	37	1	149398805	149398805	+	IGR	SNP	C	C	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:149398805C>G	ENST00000392948.2	-	0	412				RP5-998N21.10_ENST00000609879.1_RNA|HIST2H2BB_ENST00000609585.1_RNA|RP5-998N21.7_ENST00000444624.1_RNA					histone cluster 2, H3, pseudogene 2											lung(1)|ovary(1)	2						ACTCTTACTTCGAGCTGGTGT	0.582																																																	0													14.0	10.0	11.0					1																	149398805		686	1533	2219	SO:0001628	intergenic_variant	0			AL109948		1q21.1	2012-04-11	2006-10-11		ENSG00000203818	ENSG00000203818		"""Histones / Replication-dependent"""	32060	pseudogene	pseudogene			"""histone 2, H3, pseudogene 2"""				Standard	NG_012783		Approved	p06			OTTHUMG00000041033		1.37:g.149398805C>G				RNA	SNP	-	NULL	ENST00000392948.2	37	NULL		1																																																																																			HIST2H2BB	-	-	ENSG00000240929		0.582	HIST2H3PS2-001	PUTATIVE	basic|appris_principal	protein_coding	HIST2H2BB	HGNC	protein_coding	OTTHUMT00000098436.3	-	0.00	60	0	C	NG_012783		149398805	-1	tier1	-	no_errors	ENST00000609585	ensembl	human	known	74_37	rna	13.51	64	10	SNP	1.000	G
HMMR	3161	genome.wustl.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																																	0																																										SO:0001589	frameshift_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	NULL	p.Q667fs	ENST00000358715.3	37	c.1992_1993	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1		0.00	25	0	-	NM_012484		162917426	+1	tier1		no_errors	ENST00000393915	ensembl	human	known	74_37	frame_shift_ins	9.68	28	3	INS	0.976:1.000	A
HNRNPL	3191	genome.wustl.edu	37	19	39330959	39330959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:39330959delG	ENST00000221419.5	-	8	1376	c.1010delC	c.(1009-1011)ccafs	p.P338fs	HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.P205fs|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	338	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTAGTGAGGTGGGGGGGGCCC	0.667																																																	0									,	35,46,3417		1,0,33,2,42,1671	9.0	12.0	11.0		,	4.0	1.0	19		11	49,101,6606		1,0,47,4,93,3233	no	codingComplex,codingComplex	HNRNPL	NM_001533.2,NM_001005335.1	,	2,0,80,6,135,4904	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2202,2.3156,2.2528	,	,	39330959	84,147,10023	1906	3709	5615	SO:0001589	frameshift_variant	0			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1010delC	19.37:g.39330959delG	ENSP00000221419:p.Pro338fs		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P337fs	ENST00000221419.5	37	c.1010	CCDS33015.1	19																																																																																			HNRNPL	-	tigrfam_HnRNP-L_PTB	ENSG00000104824		0.667	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1		0.00	15	0	G			39330959	-1	tier1		no_errors	ENST00000221419	ensembl	human	known	74_37	frame_shift_del	15.79	16	3	DEL	1.000	-
IL9R	3581	genome.wustl.edu	37	X	155233447	155233447	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chrX:155233447C>T	ENST00000244174.5	+	4	539	c.360C>T	c.(358-360)atC>atT	p.I120I	IL9R_ENST00000540897.1_Missense_Mutation_p.S155L|IL9R_ENST00000369423.2_Missense_Mutation_p.S165L|IL9R_ENST00000424344.3_Silent_p.I99I	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	120					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTCACCATCACTTTCCACC	0.617																																																	0													125.0	115.0	118.0					X																	155233447		2203	4296	6499	SO:0001819	synonymous_variant	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.360C>T	X.37:g.155233447C>T			B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S165L	ENST00000244174.5	37	c.494	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	7.513	0.655002	0.14580	.	.	ENSG00000124334	ENST00000369423;ENST00000540897	T;T	0.31247	1.5;1.5	1.29	1.29	0.21616	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.21708	0.036	T	0.27640	-1.0068	8	0.17369	T	0.5	-22.3177	5.5447	0.17057	0.0:1.0:0.0:0.0	.	165	B9ZVT0	.	L	165;155	ENSP00000358431:S165L;ENSP00000438112:S155L	ENSP00000358431:S165L	S	+	2	0	IL9R	154886641	0.743000	0.28239	0.821000	0.32701	0.568000	0.35870	0.901000	0.28445	0.932000	0.37266	0.287000	0.19450	TCA	IL9R	-	NULL	ENSG00000124334		0.617	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0.00	88	0	C	NM_002186		155233447	+1	tier1	-	no_errors	ENST00000369423	ensembl	human	known	74_37	missense	25.88	63	22	SNP	0.819	T
IRX4	50805	genome.wustl.edu	37	5	1878497	1878499	+	In_Frame_Del	DEL	GGC	GGC	-	rs570462700	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:1878497_1878499delGGC	ENST00000505790.1	-	6	1600_1602	c.1144_1146delGCC	c.(1144-1146)gccdel	p.A382del	IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000513692.1_In_Frame_Del_p.A382del|IRX4_ENST00000231357.2_In_Frame_Del_p.A382del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	382	Poly-Ala.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCAGGGAggtggcggcggcggcg	0.739																																																	0										23,21,1962		8,0,7,8,5,975							0.6			4	3,77,4640		1,0,1,12,53,2293	no	codingComplex	IRX4	NM_016358.2		9,0,8,20,58,3268	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6949,2.1934,1.8436				26,98,6602				SO:0001651	inframe_deletion	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.1144_1146delGCC	5.37:g.1878506_1878508delGGC	ENSP00000423161:p.Ala382del		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A382in_frame_del	ENST00000505790.1	37	c.1146_1144	CCDS3867.1	5																																																																																			IRX4	-	NULL	ENSG00000113430		0.739	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1		0.00	21	0	GGC	NM_016358		1878499	-1	tier1		no_errors	ENST00000231357	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.734:0.681:0.628	-
ITGAD	3681	genome.wustl.edu	37	16	31414942	31414942	+	Missense_Mutation	SNP	C	C	T	rs199750609		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:31414942C>T	ENST00000389202.2	+	7	729	c.680C>T	c.(679-681)aCg>aTg	p.T227M	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	227	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						CTGACGTTCACGGCCACGGGC	0.602																																																	0													104.0	84.0	91.0					16																	31414942		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.680C>T	16.37:g.31414942C>T	ENSP00000373854:p.Thr227Met		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.T227M	ENST00000389202.2	37	c.680	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546966	0.65198	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	D	0.86627	-2.15	4.69	3.74	0.42951	von Willebrand factor, type A (3);	.	.	.	.	D	0.94686	0.8286	H	0.94503	3.545	0.31416	N	0.674847	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93223	0.6610	9	0.87932	D	0	.	10.649	0.45636	0.0:0.9062:0.0:0.0938	.	227;243;227	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	M	91;243;227	ENSP00000373854:T227M	ENSP00000323325:T91M	T	+	2	0	ITGAD	31322443	0.996000	0.38824	0.066000	0.19879	0.080000	0.17528	5.000000	0.63940	1.198000	0.43158	0.503000	0.49774	ACG	ITGAD	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000156886		0.602	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1		0.00	41	0	C	NM_005353		31414942	+1			no_errors	ENST00000389202	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.672	T
KCNH6	81033	genome.wustl.edu	37	17	61622991	61622991	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:61622991G>T	ENST00000583023.1	+	14	2724	c.2713G>T	c.(2713-2715)Gat>Tat	p.D905Y	KCNH6_ENST00000456941.2_Missense_Mutation_p.D816Y|KCNH6_ENST00000314672.5_Missense_Mutation_p.D869Y|KCNH6_ENST00000581784.1_Missense_Mutation_p.D816Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	905					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGAGACTTGGATGACTGTAG	0.572																																																	0													64.0	58.0	60.0					17																	61622991		2203	4300	6503	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2713G>T	17.37:g.61622991G>T	ENSP00000463533:p.Asp905Tyr		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.D905Y	ENST00000583023.1	37	c.2713	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859366	0.32884	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99264	-5.65	5.15	0.85	0.18980	.	0.315105	0.22827	N	0.055160	D	0.97579	0.9207	L	0.44542	1.39	0.30102	N	0.807331	P;P;B;P	0.48503	0.681;0.911;0.374;0.859	B;P;B;P	0.46629	0.254;0.521;0.157;0.522	D	0.95563	0.8631	10	0.72032	D	0.01	.	6.7451	0.23456	0.2034:0.0:0.6718:0.1248	.	746;869;816;905	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	Y	905;816	ENSP00000396900:D816Y	ENSP00000318212:D905Y	D	+	1	0	KCNH6	58976723	1.000000	0.71417	0.074000	0.20217	0.002000	0.02628	2.476000	0.45171	0.019000	0.15079	-0.182000	0.12963	GAT	KCNH6	-	NULL	ENSG00000173826		0.572	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0.00	40	0	G	NM_030779		61622991	+1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.742	T
KDM3B	51780	genome.wustl.edu	37	5	137753253	137753253	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:137753253A>T	ENST00000314358.5	+	13	3589	c.3389A>T	c.(3388-3390)cAg>cTg	p.Q1130L	KDM3B_ENST00000394866.1_Missense_Mutation_p.Q786L|KDM3B_ENST00000542866.1_Missense_Mutation_p.Q162L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1130					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATCAGTCGACAGAACAAATCT	0.433																																																	0													152.0	132.0	139.0					5																	137753253		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3389A>T	5.37:g.137753253A>T	ENSP00000326563:p.Gln1130Leu		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.Q1130L	ENST00000314358.5	37	c.3389	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	33	5.280476	0.95489	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72167	-0.04;-0.63;-0.56	5.55	5.55	0.83447	.	0.051941	0.85682	D	0.000000	T	0.77150	0.4088	M	0.71206	2.165	0.58432	D	0.999999	P;B	0.50528	0.936;0.23	P;B	0.50934	0.654;0.082	T	0.77819	-0.2446	10	0.40728	T	0.16	-18.9871	15.6827	0.77385	1.0:0.0:0.0:0.0	.	786;1130	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	L	1130;920;786;162	ENSP00000326563:Q1130L;ENSP00000378335:Q786L;ENSP00000439462:Q162L	ENSP00000326563:Q1130L	Q	+	2	0	KDM3B	137781152	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	9.079000	0.94032	2.103000	0.63969	0.460000	0.39030	CAG	KDM3B	-	NULL	ENSG00000120733		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0.00	96	0	A	NM_016604		137753253	+1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	16.67	70	14	SNP	1.000	T
LYPLA1	10434	genome.wustl.edu	37	8	54960502	54960502	+	3'UTR	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:54960502C>T	ENST00000316963.3	-	0	1009				LYPLA1_ENST00000343231.6_3'UTR|RP11-30L15.6_ENST00000565668.2_lincRNA	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I						fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GTGTTATTGGCATGTATTTGC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.*123G>A	8.37:g.54960502C>T			O43202|Q9UQF9	RNA	SNP	-	NULL	ENST00000316963.3	37	NULL	CCDS6157.1	8																																																																																			LYPLA1	-	-	ENSG00000120992		0.323	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	HGNC	protein_coding	OTTHUMT00000378238.1	-	0.00	51	0	C			54960502	-1	tier1	-	no_errors	ENST00000519272	ensembl	human	known	74_37	rna	8.93	51	5	SNP	0.041	T
MARCH7	64844	genome.wustl.edu	37	2	160599647	160599647	+	Missense_Mutation	SNP	C	C	T	rs139916486		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:160599647C>T	ENST00000259050.4	+	3	351	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	MARCH7_ENST00000539065.1_Missense_Mutation_p.R77C|MARCH7_ENST00000409591.1_Missense_Mutation_p.R39C|MARCH7_ENST00000409175.1_Missense_Mutation_p.R77C|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	77	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R77C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCAGGGAGCACGCTCAAGATC	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,4406		0,0,2203	125.0	121.0	122.0		229	3.7	1.0	2	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	MARCH7	NM_022826.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/705	160599647	1,13005	2203	4300	6503	SO:0001583	missense	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.229C>T	2.37:g.160599647C>T	ENSP00000259050:p.Arg77Cys		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R77C	ENST00000259050.4	37	c.229	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961234	0.34565	0.0	1.16E-4	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037;ENST00000409591	T;T;T;T;T	0.45668	2.61;2.69;2.61;0.89;2.6	5.54	3.72	0.42706	.	0.603491	0.19244	N	0.119081	T	0.23611	0.0571	N	0.16478	0.41	0.41849	D	0.990169	B;B;B	0.15719	0.007;0.014;0.014	B;B;B	0.08055	0.003;0.002;0.001	T	0.09862	-1.0655	10	0.40728	T	0.16	-1.1016	6.2791	0.20997	0.0:0.7617:0.0:0.2383	.	77;39;77	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	C	77;77;77;77;39	ENSP00000386830:R77C;ENSP00000442992:R77C;ENSP00000259050:R77C;ENSP00000392862:R77C;ENSP00000387238:R39C	ENSP00000259050:R77C	R	+	1	0	MARCH7	160307893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.150000	0.50662	2.607000	0.88179	0.650000	0.86243	CGC	MARCH7	-	NULL	ENSG00000136536		0.413	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3		0.00	27	0	C	NM_022826		160599647	+1			no_errors	ENST00000259050	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
MIR548I1	100302204	genome.wustl.edu	37	3	125509324	125509324	+	lincRNA	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:125509324A>G	ENST00000610060.1	+	0	194				MIR548I1_ENST00000408810.1_RNA																							tatttttgccattacttttaa	0.393																																																	0													51.0	56.0	54.0					3																	125509324		876	1989	2865			0																															3.37:g.125509324A>G				RNA	SNP	-	NULL	ENST00000610060.1	37	NULL		3																																																																																			MIR548I1	-	-	ENSG00000221737		0.393	RP11-379B18.6-001	KNOWN	basic	lincRNA	MIR548I1	HGNC	lincRNA	OTTHUMT00000471880.1	-	0.00	214	0	A			125509324	-1	tier1	-	no_errors	ENST00000408810	ensembl	human	known	74_37	rna	7.07	184	14	SNP	0.009	G
MSH6	2956	genome.wustl.edu	37	2	48030583	48030583	+	Missense_Mutation	SNP	A	A	G	rs267608085|rs587781870|rs372103816		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:48030583A>G	ENST00000234420.5	+	5	3349	c.3197A>G	c.(3196-3198)tAt>tGt	p.Y1066C	MSH6_ENST00000540021.1_Missense_Mutation_p.Y936C|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.Y764C	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1066					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGCTAACTATAGTCGAGGG	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)						A	CYS/TYR	0,4406		0,0,2203	95.0	86.0	89.0		3197	5.4	0.9	2		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	MSH6	NM_000179.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1066/1361	48030583	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3197A>G	2.37:g.48030583A>G	ENSP00000234420:p.Tyr1066Cys		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.Y1066C	ENST00000234420.5	37	c.3197	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340935	0.81911	0.0	1.16E-4	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.86865	-2.18;-2.18;-2.18	5.42	5.42	0.78866	DNA mismatch repair protein MutS, core (2);	0.055385	0.85682	D	0.000000	D	0.90689	0.7079	L	0.48174	1.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68353	0.947;0.957	D	0.90965	0.4815	10	0.51188	T	0.08	-7.2672	15.4547	0.75302	1.0:0.0:0.0:0.0	.	936;1066	B4DF41;P52701	.;MSH6_HUMAN	C	1066;34;936;764	ENSP00000234420:Y1066C;ENSP00000446475:Y936C;ENSP00000438580:Y764C	ENSP00000234420:Y1066C	Y	+	2	0	MSH6	47884087	1.000000	0.71417	0.905000	0.35620	0.906000	0.53458	9.307000	0.96226	2.067000	0.61834	0.397000	0.26171	TAT	MSH6	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0.00	44	0	A	NM_000179		48030583	+1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	G
MYH1	4619	genome.wustl.edu	37	17	10406064	10406066	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:10406064_10406066delTTG	ENST00000226207.5	-	24	3194_3196	c.3100_3102delCAA	c.(3100-3102)caadel	p.Q1034del	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1034					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCATCCACTTGTTGTTCAAGT	0.394																																																	0																																										SO:0001651	inframe_deletion	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3100_3102delCAA	17.37:g.10406067_10406069delTTG	ENSP00000226207:p.Gln1034del		Q14CA4|Q9Y622	In_Frame_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1034in_frame_del	ENST00000226207.5	37	c.3102_3100	CCDS11155.1	17																																																																																			MYH1	-	NULL	ENSG00000109061		0.394	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0.00	156	0	TTG	NM_005963		10406066	-1			no_errors	ENST00000226207	ensembl	human	known	74_37	in_frame_del	5.30	125	7	DEL	1.000:1.000:1.000	0
MROH6	642475	genome.wustl.edu	37	8	144657109	144657109	+	5'Flank	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:144657109G>T	ENST00000398882.3	-	0	0				NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Intron|NAPRT1_ENST00000449291.2_Intron|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000276844.7_Missense_Mutation_p.L534I|NAPRT1_ENST00000435154.3_3'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		GGCAGGGTGAGGGCGGGGGCG	0.697																																																	0													22.0	25.0	24.0					8																	144657109		691	1590	2281	SO:0001631	upstream_gene_variant	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657109G>T	Exception_encountered		A8MWB1	Missense_Mutation	SNP	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	p.L534I	ENST00000398882.3	37	c.1600	CCDS47928.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.71|11.71	1.720028|1.720028	0.30503|0.30503	.|.	.|.	ENSG00000147813|ENSG00000147813	ENST00000276844|ENST00000340490	T|T	0.45276|0.45276	0.9|0.9	5.15|5.15	-4.41|-4.41	0.03590|0.03590	.|.	18.646400|.	0.00166|.	N|.	0.000003|.	T|T	0.24236|0.24236	0.0587|0.0587	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.16158|0.16158	-1.0412|-1.0412	7|8	0.52906|0.41790	T|T	0.07|0.15	.|.	4.392|4.392	0.11344|0.11344	0.1172:0.0943:0.2512:0.5373|0.1172:0.0943:0.2512:0.5373	.|.	.|534	.|G5E977	.|.	I|H	534|534	ENSP00000276844:L534I|ENSP00000341136:P534H	ENSP00000276844:L534I|ENSP00000341136:P534H	L|P	-|-	1|2	0|0	NAPRT1|NAPRT1	144728252|144728252	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-0.365000|-0.365000	0.07573|0.07573	-1.218000|-1.218000	0.02601|0.02601	0.655000|0.655000	0.94253|0.94253	CTC|CCT	NAPRT1	-	superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam	ENSG00000147813		0.697	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382330.3	-	0.00	63	0	G	NM_001100878		144657109	-1	tier1	-	no_errors	ENST00000276844	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.000	T
NAT10	55226	genome.wustl.edu	37	11	34129782	34129782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:34129782delA	ENST00000257829.3	+	2	216	c.10delA	c.(10-12)aaafs	p.K5fs	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Frame_Shift_Del_p.K5fs	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	5						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CATGCATCGGAAAAAGGTGGA	0.433																																																	0													123.0	125.0	124.0					11																	34129782		2202	4298	6500	SO:0001589	frameshift_variant	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.10delA	11.37:g.34129782delA	ENSP00000257829:p.Lys5fs		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Frame_Shift_Del	DEL	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.K5fs	ENST00000257829.3	37	c.10	CCDS7889.1	11																																																																																			NAT10	-	NULL	ENSG00000135372		0.433	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1		0.00	58	0	A	NM_024662		34129782	+1	tier1		no_errors	ENST00000257829	ensembl	human	known	74_37	frame_shift_del	6.82	41	3	DEL	1.000	-
NLRC3	197358	genome.wustl.edu	37	16	3592200	3592201	+	RNA	INS	-	-	GG			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:3592200_3592201insGG	ENST00000301749.7	-	0	3502_3503				LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATATGCTGGAGCCTGTGG	0.545																																																	0																																												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.3592201_3592202dupGG			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Frame_Shift_Ins	INS	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.Q1079fs	ENST00000301749.7	37	c.3236_3235		16																																																																																			NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.545	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene			0.00	44	0	-	NM_178844		3592201	-1	tier1		no_errors	ENST00000448023	ensembl	human	known	74_37	frame_shift_ins	5.13	37	2	INS	0.997:1.000	GG
NOD2	64127	genome.wustl.edu	37	16	50756597	50756597	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:50756597C>A	ENST00000300589.2	+	8	2884	c.2779C>A	c.(2779-2781)Cag>Aag	p.Q927K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	927					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|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)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|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 nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGGTGATCACCAGAGCTTGAG	0.552																																																	0													185.0	197.0	193.0					16																	50756597		2198	4300	6498	SO:0001583	missense	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2779C>A	16.37:g.50756597C>A	ENSP00000300589:p.Gln927Lys		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_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.Q927K	ENST00000300589.2	37	c.2779	CCDS10746.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.908|7.908	0.735838|0.735838	0.15574|0.15574	.|.	.|.	ENSG00000167207|ENSG00000167207	ENST00000534057|ENST00000526417;ENST00000300589;ENST00000431240	.|T	.|0.51325	.|0.71	5.91|5.91	3.93|3.93	0.45458|0.45458	.|.	.|0.942961	.|0.08943	.|N	.|0.871292	T|T	0.18509|0.18509	0.0444|0.0444	N|N	0.01109|0.01109	-1.01|-1.01	0.26469|0.26469	N|N	0.975317|0.975317	.|B;B	.|0.32128	.|0.014;0.357	.|B;B	.|0.34590	.|0.019;0.186	T|T	0.15321|0.15321	-1.0441|-1.0441	5|10	.|0.02654	.|T	.|1	.|.	9.2639|9.2639	0.37630|0.37630	0.1638:0.6786:0.1576:0.0|0.1638:0.6786:0.1576:0.0	.|.	.|900;927	.|Q9HC29-2;Q9HC29	.|.;NOD2_HUMAN	Q|K	138|900;927;67	.|ENSP00000300589:Q927K	.|ENSP00000300589:Q927K	P|Q	+|+	2|1	0|0	NOD2|NOD2	49314098|49314098	0.774000|0.774000	0.28592|0.28592	0.949000|0.949000	0.38748|0.38748	0.993000|0.993000	0.82548|0.82548	1.135000|1.135000	0.31454|0.31454	0.805000|0.805000	0.34159|0.34159	0.655000|0.655000	0.94253|0.94253	CCA|CAG	NOD2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167207		0.552	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	0.00	87	0	C	NM_022162		50756597	+1	tier1	-	no_errors	ENST00000300589	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.855	A
NOL10	79954	genome.wustl.edu	37	2	10815986	10815986	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:10815986G>T	ENST00000381685.5	-	4	328	c.223C>A	c.(223-225)Cct>Act	p.P75T	NOL10_ENST00000542668.1_Missense_Mutation_p.P25T|NOL10_ENST00000538384.1_Intron|NOL10_ENST00000345985.3_Missense_Mutation_p.P75T	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	75						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CGAACCCGAGGTTTATATGTT	0.313																																																	0													54.0	52.0	53.0					2																	10815986		2202	4299	6501	SO:0001583	missense	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.223C>A	2.37:g.10815986G>T	ENSP00000371101:p.Pro75Thr		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.P75T	ENST00000381685.5	37	c.223	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803249	0.90623	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668	T;T;T	0.65732	2.31;2.81;-0.17	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89655	0.3872	10	0.87932	D	0	-16.7023	20.0124	0.97464	0.0:0.0:1.0:0.0	.	75;75	Q9BSC4;Q9BSC4-2	NOL10_HUMAN;.	T	75;75;25	ENSP00000263837:P75T;ENSP00000371101:P75T;ENSP00000437625:P25T	ENSP00000263837:P75T	P	-	1	0	NOL10	10733437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.387000	0.97232	2.749000	0.94314	0.655000	0.94253	CCT	NOL10	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000115761		0.313	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	-	0.00	25	0	G	NM_024894		10815986	-1	tier1	-	no_errors	ENST00000381685	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T
NOTCH2	4853	genome.wustl.edu	37	1	120483302	120483302	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:120483302G>A	ENST00000256646.2	-	19	3278	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1020	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCAGAAGGATCCAGTGAA	0.512			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													165.0	136.0	146.0					1																	120483302		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3059C>T	1.37:g.120483302G>A	ENSP00000256646:p.Ser1020Phe		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S1020F	ENST00000256646.2	37	c.3059	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126138	0.37533	.	.	ENSG00000134250	ENST00000256646	D	0.91843	-2.92	5.6	3.73	0.42828	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.942898	0.08653	U	0.913661	D	0.84492	0.5484	L	0.46819	1.47	0.09310	N	1	B;B	0.23891	0.051;0.093	B;B	0.35073	0.195;0.119	T	0.78198	-0.2297	10	0.66056	D	0.02	.	9.072	0.36497	0.1379:0.0:0.7404:0.1217	.	1020;1020	Q6IQ50;Q04721	.;NOTC2_HUMAN	F	1020	ENSP00000256646:S1020F	ENSP00000256646:S1020F	S	-	2	0	NOTCH2	120284825	0.959000	0.32827	0.963000	0.40424	0.533000	0.34776	2.168000	0.42424	0.331000	0.23511	-1.119000	0.02030	TCC	NOTCH2	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134250		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0.00	61	0	G	NM_024408		120483302	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.004	A
NOTCH3	4854	genome.wustl.edu	37	19	15296491	15296491	+	Splice_Site	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:15296491C>T	ENST00000263388.2	-	13	2027		c.e13-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAAAGGGGCCCTGGGGAGTAC	0.582																																																	0													64.0	54.0	57.0					19																	15296491		2203	4300	6503	SO:0001630	splice_region_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1952-1G>A	19.37:g.15296491C>T			Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	-	e13-1	ENST00000263388.2	37	c.1952-1	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844935	0.71603	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3238	0.87242	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15157491	1.000000	0.71417	0.997000	0.53966	0.751000	0.42716	7.222000	0.78025	2.388000	0.81334	0.655000	0.94253	.	NOTCH3	-	-	ENSG00000074181		0.582	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	43	0	C	NM_000435	Intron	15296491	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	splice_site	26.67	33	12	SNP	1.000	T
NPC1	4864	genome.wustl.edu	37	18	21125043	21125043	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:21125043C>T	ENST00000269228.5	-	12	2382	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	NPC1_ENST00000412552.2_Missense_Mutation_p.E292K|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	610					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTTCATCTTCAATACTTCGT	0.343																																																	0													110.0	100.0	103.0					18																	21125043		2203	4300	6503	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1828G>A	18.37:g.21125043C>T	ENSP00000269228:p.Glu610Lys		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.E610K	ENST00000269228.5	37	c.1828	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	37	6.105660	0.97286	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.94457	-3.43;-3.32	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.80422	2.495	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.61201	0.885;0.885	D	0.97121	0.9811	10	0.87932	D	0	-27.3775	20.3928	0.98949	0.0:1.0:0.0:0.0	.	621;610	Q59GR1;O15118	.;NPC1_HUMAN	K	610;292;455	ENSP00000269228:E610K;ENSP00000408606:E292K	ENSP00000269228:E610K	E	-	1	0	NPC1	19379041	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.614000	0.82996	2.813000	0.96785	0.655000	0.94253	GAA	NPC1	-	pfam_Patched,tigrfam_NP_C_type	ENSG00000141458		0.343	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	-	0.00	51	0	C	NM_000271		21125043	-1	tier1	-	no_errors	ENST00000269228	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
NRG3	10718	genome.wustl.edu	37	10	83637833	83637833	+	Intron	SNP	C	C	T	rs568584680		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:83637833C>T	ENST00000404547.1	+	1	823				NRG3_ENST00000404576.2_Silent_p.V39V|NRG3_ENST00000556918.1_Silent_p.V39V|NRG3_ENST00000372142.2_Intron|NRG3_ENST00000372141.2_Intron			P56975	NRG3_HUMAN	neuregulin 3						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCCGGAGGTCTTTAAAGAAA	0.443																																																	0													167.0	170.0	169.0					10																	83637833		692	1591	2283	SO:0001627	intron_variant	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.823+1914C>T	10.37:g.83637833C>T			A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	NULL	p.V39	ENST00000404547.1	37	c.117	CCDS31233.1	10																																																																																			NRG3	-	NULL	ENSG00000185737		0.443	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0.00	50	0	C	XM_166086		83637833	+1	tier1	-	no_errors	ENST00000555784	ensembl	human	known	74_37	silent	13.21	46	7	SNP	1.000	T
NUP107	57122	genome.wustl.edu	37	12	69114932	69114932	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:69114932C>T	ENST00000229179.4	+	15	1618	c.1286C>T	c.(1285-1287)gCa>gTa	p.A429V	NUP107_ENST00000378905.2_Missense_Mutation_p.A278V|NUP107_ENST00000539906.1_Missense_Mutation_p.A400V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	429					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAATTTATGCAGCTTTAAGT	0.249																																																	0													88.0	93.0	91.0					12																	69114932		2203	4292	6495	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1286C>T	12.37:g.69114932C>T	ENSP00000229179:p.Ala429Val		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.A429V	ENST00000229179.4	37	c.1286	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338590	0.81911	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.53	4.63	0.57726	.	0.046212	0.85682	D	0.000000	T	0.80093	0.4560	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.82444	-0.0454	8	.	.	.	-14.6032	14.9511	0.71074	0.0:0.8574:0.1426:0.0	.	400;278;429	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	V	429;278;400	.	.	A	+	2	0	NUP107	67401199	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.168000	0.71908	1.449000	0.47699	0.585000	0.79938	GCA	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.249	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0.00	26	0	C	NM_020401		69114932	+1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T
NUP153	9972	genome.wustl.edu	37	6	17661926	17661926	+	Silent	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:17661926T>C	ENST00000262077.2	-	11	1352	c.1353A>G	c.(1351-1353)cgA>cgG	p.R451R	NUP153_ENST00000537253.1_Silent_p.R451R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	451					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGTTCTTTCTCGTCTCATCT	0.423																																																	0													141.0	138.0	139.0					6																	17661926		2203	4300	6503	SO:0001819	synonymous_variant	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1353A>G	6.37:g.17661926T>C			B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.R451	ENST00000262077.2	37	c.1353	CCDS4541.1	6																																																																																			NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.423	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0.00	48	0	T			17661926	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	silent	20.69	23	6	SNP	1.000	C
NUP160	23279	genome.wustl.edu	37	11	47814369	47814369	+	Missense_Mutation	SNP	G	G	A	rs369156455		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:47814369G>A	ENST00000378460.2	-	28	3465	c.3419C>T	c.(3418-3420)gCg>gTg	p.A1140V	NUP160_ENST00000530326.1_Missense_Mutation_p.A1026V|NUP160_ENST00000528071.1_Missense_Mutation_p.A1026V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1140					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CACAATCCACGCATATTCTGG	0.463																																																	0								G	VAL/ALA	0,4402		0,0,2201	173.0	163.0	167.0		3419	5.4	0.9	11		167	2,8594	2.2+/-6.3	0,2,4296	no	missense	NUP160	NM_015231.1	64	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1140/1437	47814369	2,12996	2201	4298	6499	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3419C>T	11.37:g.47814369G>A	ENSP00000367721:p.Ala1140Val		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.A1140V	ENST00000378460.2	37	c.3419	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.524346	0.96431	0.0	2.33E-4	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.64618	0.47;-0.11;-0.04	5.44	5.44	0.79542	.	0.060757	0.64402	D	0.000004	T	0.75162	0.3812	M	0.82193	2.58	0.80722	D	1	D	0.71674	0.998	P	0.51229	0.663	T	0.79976	-0.1576	10	0.66056	D	0.02	.	18.8821	0.92360	0.0:0.0:1.0:0.0	.	1140	Q12769	NU160_HUMAN	V	1140;1026;1026	ENSP00000367721:A1140V;ENSP00000433590:A1026V;ENSP00000432367:A1026V	ENSP00000367721:A1140V	A	-	2	0	NUP160	47770945	1.000000	0.71417	0.948000	0.38648	0.995000	0.86356	9.434000	0.97515	2.558000	0.86282	0.650000	0.86243	GCG	NUP160	-	NULL	ENSG00000030066		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2		0.00	20	0	G	NM_015231		47814369	-1			no_errors	ENST00000378460	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A
OR2M2	391194	genome.wustl.edu	37	1	248343797	248343797	+	Silent	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:248343797G>T	ENST00000359682.2	+	1	510	c.510G>T	c.(508-510)ggG>ggT	p.G170G		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170V(1)|p.G170G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTTTGTGGGTCTCGGGAAA	0.423																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											226.0	223.0	224.0					1																	248343797		2203	4300	6503	SO:0001819	synonymous_variant	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.510G>T	1.37:g.248343797G>T			A3KFT4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G170	ENST00000359682.2	37	c.510	CCDS31106.1	1																																																																																			OR2M2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198601		0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0.00	145	0	G	NM_001004688		248343797	+1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	silent	7.03	119	9	SNP	0.000	T
OR2T6	254879	genome.wustl.edu	37	1	248551359	248551359	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:248551359C>T	ENST00000355728.2	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F150F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTTGGTTCGGTGGGGCTT	0.557																																																	1	Substitution - coding silent(1)	prostate(1)											82.0	78.0	79.0					1																	248551359		2203	4300	6503	SO:0001819	synonymous_variant	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.450C>T	1.37:g.248551359C>T			A6NE36	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F150	ENST00000355728.2	37	c.450	CCDS31114.1	1																																																																																			OR2T6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198104		0.557	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1		0.00	53	0	C	NM_001005471		248551359	+1			no_errors	ENST00000355728	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.001	T
OR2T34	127068	genome.wustl.edu	37	1	248737167	248737167	+	Missense_Mutation	SNP	G	G	A	rs148590921	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:248737167G>A	ENST00000328782.2	-	1	913	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	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)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTTGTTGCGGAGACTGTAA	0.483																																																	0													13.0	13.0	13.0					1																	248737167		1841	3755	5596	SO:0001583	missense	0			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.892C>T	1.37:g.248737167G>A	ENSP00000330904:p.Arg298Cys		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R298C	ENST00000328782.2	37	c.892	CCDS31120.1	1	418	0.19139194139194138	111	0.22560975609756098	65	0.17955801104972377	145	0.2534965034965035	97	0.1279683377308707	.	8.250	0.808823	0.16467	.	.	ENSG00000183310	ENST00000328782	T	0.40476	1.03	2.37	-4.74	0.03249	.	.	.	.	.	T	0.00012	0.0000	M	0.77820	2.39	0.80722	P	0.0	D	0.89917	1.0	D	0.74348	0.983	T	0.06588	-1.0818	8	0.72032	D	0.01	.	5.5241	0.16949	0.1475:0.0:0.2286:0.624	.	298	Q8NGX1	O2T34_HUMAN	C	298	ENSP00000330904:R298C	ENSP00000330904:R298C	R	-	1	0	OR2T34	246803790	0.000000	0.05858	0.003000	0.11579	0.341000	0.28922	-0.784000	0.04633	-1.176000	0.02747	0.123000	0.15791	CGC	OR2T34	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000183310		0.483	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	-	0.00	15	0	G	NM_001001821		248737167	-1	tier1	rs148590921	no_errors	ENST00000328782	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	A
OSBPL10	114884	genome.wustl.edu	37	3	31774849	31774849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:31774849delT	ENST00000396556.2	-	6	1117	c.995delA	c.(994-996)aatfs	p.N332fs	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.N268fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	332					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTGTCCCATTTTTCAGCTG	0.458																																																	0													168.0	158.0	161.0					3																	31774849		2203	4300	6503	SO:0001589	frameshift_variant	0			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.995delA	3.37:g.31774849delT	ENSP00000379804:p.Asn332fs		B4E212|Q9BTU5	Frame_Shift_Del	DEL	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N332fs	ENST00000396556.2	37	c.995	CCDS2651.1	3																																																																																			OSBPL10	-	NULL	ENSG00000144645		0.458	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2		0.00	73	0	T			31774849	-1	tier1		no_errors	ENST00000396556	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000	-
OTOGL	283310	genome.wustl.edu	37	12	80647261	80647261	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:80647261A>G	ENST00000547103.1	+	13	1280	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	OTOGL_ENST00000458043.2_Missense_Mutation_p.N425S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	425	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTAATGGACAATGGGACTTGC	0.333																																																	0													161.0	149.0	153.0					12																	80647261		1829	4076	5905	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1274A>G	12.37:g.80647261A>G	ENSP00000447211:p.Asn425Ser		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.N425S	ENST00000547103.1	37	c.1274		12	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968602	0.74131	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.90620	-2.7;-2.7	5.71	5.71	0.89125	.	.	.	.	.	D	0.92364	0.7577	L	0.53729	1.69	0.50039	D	0.999848	.	.	.	.	.	.	D	0.92200	0.5767	7	0.48119	T	0.1	.	15.9855	0.80147	1.0:0.0:0.0:0.0	.	.	.	.	S	425	ENSP00000447211:N425S;ENSP00000400895:N425S	ENSP00000400895:N425S	N	+	2	0	OTOGL	79171392	1.000000	0.71417	0.987000	0.45799	0.795000	0.44927	8.254000	0.89844	2.179000	0.69175	0.528000	0.53228	AAT	OTOGL	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000165899		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0.00	79	0	A	NM_173591		80647261	+1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	G
PARP2	10038	genome.wustl.edu	37	14	20822982	20822982	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:20822982G>A	ENST00000250416.5	+	9	844	c.817G>A	c.(817-819)Gca>Aca	p.A273T	PARP2_ENST00000429687.3_Missense_Mutation_p.A260T|PARP2_ENST00000527915.1_Missense_Mutation_p.A273T	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	273	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A273T(1)|p.A224T(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTGACAGTGGCACAAATCAA	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									2	Substitution - Missense(2)	kidney(2)											129.0	129.0	129.0					14																	20822982		1981	4164	6145	SO:0001583	missense	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.817G>A	14.37:g.20822982G>A	ENSP00000250416:p.Ala273Thr		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A273T	ENST00000250416.5	37	c.817	CCDS41910.1	14	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706676	0.68615	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.11604	2.76;2.76;2.76	5.18	4.27	0.50696	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.179769	0.47852	D	0.000215	T	0.08268	0.0206	L	0.33189	0.99	0.47245	D	0.999364	P;P;P	0.42161	0.772;0.562;0.591	B;B;B	0.38194	0.267;0.049;0.158	T	0.33085	-0.9882	10	0.14656	T	0.56	-5.6768	13.1418	0.59438	0.0802:0.0:0.9198:0.0	.	186;260;273	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	T	260;273;273	ENSP00000392972:A260T;ENSP00000250416:A273T;ENSP00000432283:A273T	ENSP00000250416:A273T	A	+	1	0	PARP2	19892822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.061000	0.64319	2.694000	0.91930	0.655000	0.94253	GCA	PARP2	-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	ENSG00000129484		0.468	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2		0.00	69	0	G			20822982	+1			no_errors	ENST00000250416	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A
PCDHA3	56145	genome.wustl.edu	37	5	140182336	140182336	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:140182336C>T	ENST00000522353.2	+	1	1554	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	PCDHA3_ENST00000532566.2_Silent_p.Y518Y|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.687																																																	0													77.0	80.0	79.0					5																	140182336		2203	4297	6500	SO:0001819	synonymous_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1554C>T	5.37:g.140182336C>T			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Y518	ENST00000522353.2	37	c.1554	CCDS54915.1	5																																																																																			PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000255408		0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0.00	213	0	C	NM_018906		140182336	+1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	silent	5.47	190	11	SNP	0.732	T
PCDHGC5	56097	genome.wustl.edu	37	5	140870083	140870083	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:140870083G>A	ENST00000252087.1	+	1	1276	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTGCTGGCCAGCGATGC	0.517																																																	0													196.0	198.0	197.0					5																	140870083		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1276G>A	5.37:g.140870083G>A	ENSP00000252087:p.Ala426Thr		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A426T	ENST00000252087.1	37	c.1276	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387186	0.82902	.	.	ENSG00000240764	ENST00000252087	T	0.63580	-0.05	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000028	D	0.86948	0.6056	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90539	0.4501	10	0.87932	D	0	.	19.3074	0.94169	0.0:0.0:1.0:0.0	.	426;426	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	T	426	ENSP00000252087:A426T	ENSP00000252087:A426T	A	+	1	0	PCDHGC5	140850267	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.760000	0.85248	2.890000	0.99128	0.655000	0.94253	GCC	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.517	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0.00	55	0	G	NM_018929		140870083	+1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	A
PENK	5179	genome.wustl.edu	37	8	57358292	57358292	+	Intron	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:57358292G>A	ENST00000314922.3	-	1	215				PENK_ENST00000518770.1_Missense_Mutation_p.A74V|PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron|PENK_ENST00000523274.1_5'Flank|RP11-17A4.2_ENST00000518662.1_RNA	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin						aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TACGCGCCGCGCGGTGGGCCG	0.657																																																	0																																										SO:0001627	intron_variant	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.138+82C>T	8.37:g.57358292G>A			B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A	p.A74V	ENST00000314922.3	37	c.221	CCDS6168.1	8	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347635	0.41599	.	.	ENSG00000181195	ENST00000518770	.	.	.	3.24	2.35	0.29111	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.09310	N	1	B	0.24882	0.113	B	0.14023	0.01	T	0.25152	-1.0140	7	0.87932	D	0	.	7.0224	0.24922	0.1393:0.0:0.8607:0.0	.	74	E5RJ72	.	V	74	.	ENSP00000430592:A74V	A	-	2	0	PENK	57520846	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.738000	0.26158	0.625000	0.30304	0.650000	0.86243	GCG	PENK	-	NULL	ENSG00000181195		0.657	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1	-	0.00	80	0	G			57358292	-1	tier1	-	no_errors	ENST00000518770	ensembl	human	putative	74_37	missense	9.72	64	7	SNP	0.002	A
PHKG2	5261	genome.wustl.edu	37	16	30764831	30764831	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:30764831C>T	ENST00000563588.1	+	6	748	c.509C>T	c.(508-510)tCa>tTa	p.S170L	PHKG2_ENST00000328273.7_Missense_Mutation_p.S170L|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.S170L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ATCCGACTTTCAGATTTCGGG	0.522																																																	0													62.0	64.0	63.0					16																	30764831		2197	4300	6497	SO:0001583	missense	0			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.509C>T	16.37:g.30764831C>T	ENSP00000455607:p.Ser170Leu		A8K0C7|B4DEB7|E9PEU3|P11800	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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S170L	ENST00000563588.1	37	c.509	CCDS10690.1	16	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908812	0.92107	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.40476	1.03;1.03	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001129	T	0.57519	0.2059	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.981;0.967	T	0.59632	-0.7418	10	0.87932	D	0	-7.3659	18.0678	0.89396	0.0:1.0:0.0:0.0	.	170;170	P15735;P15735-2	PHKG2_HUMAN;.	L	170	ENSP00000329968:S170L;ENSP00000388571:S170L	ENSP00000329968:S170L	S	+	2	0	PHKG2	30672332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.550000	0.86006	0.655000	0.94253	TCA	PHKG2	-	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	ENSG00000156873		0.522	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	-	0.00	39	0	C	NM_000294		30764831	+1	tier1	-	no_errors	ENST00000563588	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	T
PIK3R6	146850	genome.wustl.edu	37	17	8733047	8733047	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:8733047A>T	ENST00000311434.9	-	10	1104	c.865T>A	c.(865-867)Ttg>Atg	p.L289M	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	289					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCGGTCCACAAGTGGAAGGTG	0.572																																																	0													81.0	94.0	89.0					17																	8733047		2099	4176	6275	SO:0001583	missense	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.865T>A	17.37:g.8733047A>T	ENSP00000475670:p.Leu289Met		Q658R3	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.L289M	ENST00000311434.9	37	c.865		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.572	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0.00	46	0	A	NM_001010855		8733047	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	T
PITPNB	23760	genome.wustl.edu	37	22	28292539	28292539	+	Splice_Site	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr22:28292539C>T	ENST00000335272.5	-	6	449		c.e6+1		PITPNB_ENST00000455418.3_Splice_Site|PITPNB_ENST00000320996.10_Splice_Site	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta						glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TTGAAACTTACATTTTCTAAT	0.338																																																	0													102.0	92.0	95.0					22																	28292539		2203	4299	6502	SO:0001630	splice_region_variant	0			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.372+1G>A	22.37:g.28292539C>T			B3KYB8|B7Z7Q0|Q8N5W1	Splice_Site	SNP	-	e6+1	ENST00000335272.5	37	c.378+1	CCDS13842.1	22	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589562	0.86851	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296;ENST00000436663	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.957	0.92662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITPNB	26622539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.511000	0.81718	2.824000	0.97209	0.655000	0.94253	.	PITPNB	-	-	ENSG00000180957		0.338	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITPNB	HGNC	protein_coding	OTTHUMT00000320740.1	-	0.00	20	0	C		Intron	28292539	-1	tier1	-	no_errors	ENST00000455418	ensembl	human	known	74_37	splice_site	26.09	17	6	SNP	1.000	T
PLAT	5327	genome.wustl.edu	37	8	42037508	42037508	+	Silent	SNP	C	C	T	rs188811714		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:42037508C>T	ENST00000220809.4	-	12	1555	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	PLAT_ENST00000352041.3_Silent_p.P387P|PLAT_ENST00000429089.2_Silent_p.P433P|PLAT_ENST00000429710.2_Silent_p.P307P|PLAT_ENST00000519510.1_Silent_p.P370P|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Silent_p.P344P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	433	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCAGGTCCGCCGGGGGAAGGC	0.642																																																	0													36.0	26.0	29.0					8																	42037508		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1299G>A	8.37:g.42037508C>T			A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P433	ENST00000220809.4	37	c.1299	CCDS6126.1	8																																																																																			PLAT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000104368		0.642	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	-	0.00	32	0	C	NM_000930		42037508	-1	tier1	-	no_errors	ENST00000220809	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.000	T
PLEC	5339	genome.wustl.edu	37	8	145012810	145012810	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:145012810G>T	ENST00000322810.4	-	2	743	c.574C>A	c.(574-576)Cac>Aac	p.H192N	PLEC_ENST00000436759.2_Missense_Mutation_p.H82N|PLEC_ENST00000354958.2_Missense_Mutation_p.H33N|PLEC_ENST00000357649.2_Missense_Mutation_p.H59N|PLEC_ENST00000398774.2_Missense_Mutation_p.H23N|PLEC_ENST00000356346.3_Missense_Mutation_p.H41N|PLEC_ENST00000527096.1_Missense_Mutation_p.H82N|PLEC_ENST00000345136.3_Missense_Mutation_p.H55N|PLEC_ENST00000354589.3_Missense_Mutation_p.H55N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	192	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGATGAGGTGCTTGTTGACC	0.647																																																	0													103.0	106.0	105.0					8																	145012810		2202	4298	6500	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.574C>A	8.37:g.145012810G>T	ENSP00000323856:p.His192Asn		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.H192N	ENST00000322810.4	37	c.574	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639029	0.47153	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	4.42	3.54	0.40534	Calponin homology domain (5);	0.000000	0.64402	U	0.000009	D	0.96306	0.8795	M	0.83774	2.66	0.48135	D	0.999592	P;P;P;P;P;P;P;P	0.47409	0.872;0.872;0.872;0.895;0.872;0.872;0.872;0.872	P;P;P;P;P;P;P;P	0.61003	0.812;0.812;0.812;0.882;0.812;0.812;0.812;0.812	D	0.95785	0.8820	10	0.87932	D	0	.	8.5255	0.33302	0.1076:0.0:0.8924:0.0	.	82;41;33;192;23;55;59;55	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	55;59;55;23;192;33;41;82;82;82;32;72	ENSP00000344848:H55N;ENSP00000350277:H59N;ENSP00000346602:H55N;ENSP00000381756:H23N;ENSP00000323856:H192N;ENSP00000347044:H33N;ENSP00000348702:H41N;ENSP00000388180:H82N;ENSP00000434583:H82N;ENSP00000437303:H82N;ENSP00000433557:H32N;ENSP00000436702:H72N	ENSP00000323856:H192N	H	-	1	0	PLEC	145084798	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.211000	0.65219	1.080000	0.41073	0.655000	0.94253	CAC	PLEC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000178209		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0.00	51	0	G	NM_000445		145012810	-1			no_errors	ENST00000322810	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T
PLXNA4	91584	genome.wustl.edu	37	7	131912288	131912288	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:131912288C>T	ENST00000359827.3	-	7	2766	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D602N			Q9HCM2	PLXA4_HUMAN	plexin A4	602					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCAGCCCATCCATCTCTGAC	0.607																																																	0													75.0	78.0	77.0					7																	131912288		2088	4220	6308	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1804G>A	7.37:g.131912288C>T	ENSP00000352882:p.Asp602Asn		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	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.D602N	ENST00000359827.3	37	c.1804	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516019	0.64634	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00912	5.55;5.55	5.73	5.73	0.89815	.	0.636606	0.17646	N	0.166853	T	0.01092	0.0036	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.69738	-0.5064	10	0.15499	T	0.54	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	602	Q9HCM2	PLXA4_HUMAN	N	602	ENSP00000323194:D602N;ENSP00000352882:D602N	ENSP00000323194:D602N	D	-	1	0	PLXNA4	131562828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.796000	0.62496	2.722000	0.93159	0.655000	0.94253	GAT	PLXNA4	-	NULL	ENSG00000221866		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0.00	66	0	C	NM_181775		131912288	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
PLXND1	23129	genome.wustl.edu	37	3	129286396	129286396	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:129286396C>T	ENST00000324093.4	-	22	4203	c.4025G>A	c.(4024-4026)cGc>cAc	p.R1342H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1342H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1342					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCTGGCTGCGGTTCAGCTC	0.627																																					Ovarian(97;366 1484 3738 22084 39045)												0													73.0	55.0	61.0					3																	129286396		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4025G>A	3.37:g.129286396C>T	ENSP00000317128:p.Arg1342His		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_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.R1342H	ENST00000324093.4	37	c.4025	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.482358	0.96307	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35789	1.34;1.29	5.3	5.3	0.74995	.	0.065504	0.64402	D	0.000006	T	0.58409	0.2120	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56353	-0.7993	10	0.45353	T	0.12	.	18.9542	0.92653	0.0:1.0:0.0:0.0	.	1342	Q9Y4D7	PLXD1_HUMAN	H	1342	ENSP00000317128:R1342H;ENSP00000376931:R1342H	ENSP00000317128:R1342H	R	-	2	0	PLXND1	130769086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.516000	0.81772	2.490000	0.84030	0.655000	0.94253	CGC	PLXND1	-	NULL	ENSG00000004399		0.627	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0.00	77	0	C	NM_015103		129286396	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
PREP	5550	genome.wustl.edu	37	6	105729749	105729749	+	Silent	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:105729749G>T	ENST00000369110.3	-	14	1902	c.1710C>A	c.(1708-1710)ctC>ctA	p.L570L	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	570					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CACAACCAAAGAGGTCAGGTC	0.433																																																	0													90.0	79.0	82.0					6																	105729749		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1710C>A	6.37:g.105729749G>T			Q8N6D4	Silent	SNP	pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A	p.L570	ENST00000369110.3	37	c.1710	CCDS5053.1	6																																																																																			PREP	-	pfam_Peptidase_S9,prints_Peptidase_S9A	ENSG00000085377		0.433	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1		0.00	43	0	G			105729749	-1			no_errors	ENST00000369110	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.999	T
PRKCB	5579	genome.wustl.edu	37	16	24183591	24183591	+	Splice_Site	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:24183591G>T	ENST00000321728.7	+	11	1415	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	PRKCB_ENST00000303531.7_Splice_Site_p.D414Y	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCTCTTCCAGGACCGCCTGTA	0.522																																																	0													108.0	92.0	97.0					16																	24183591		2197	4300	6497	SO:0001630	splice_region_variant	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1240-1G>T	16.37:g.24183591G>T			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.D414Y	ENST00000321728.7	37	c.1240	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747165	0.89663	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.27402	1.67;1.67	5.25	5.25	0.73442	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	0.54013	0.1832	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.55418	-0.8144	10	0.87932	D	0	.	18.1787	0.89769	0.0:0.0:1.0:0.0	.	414;414	P05771-2;P05771	.;KPCB_HUMAN	Y	414	ENSP00000318315:D414Y;ENSP00000305355:D414Y	ENSP00000305355:D414Y	D	+	1	0	PRKCB	24091092	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.919000	0.87513	2.606000	0.88127	0.557000	0.71058	GAC	PRKCB	-	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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom	ENSG00000166501		0.522	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0.00	100	0	G	NM_212535	Missense_Mutation	24183591	+1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
PYGL	5836	genome.wustl.edu	37	14	51404467	51404467	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:51404467T>C	ENST00000216392.7	-	2	664	c.332A>G	c.(331-333)gAg>gGg	p.E111G	PYGL_ENST00000532462.1_Missense_Mutation_p.E111G|PYGL_ENST00000544180.2_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	111					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GTAAATGGCCTCATCACAGGC	0.398																																																	0													168.0	155.0	159.0					14																	51404467		2203	4300	6503	SO:0001583	missense	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.332A>G	14.37:g.51404467T>C	ENSP00000216392:p.Glu111Gly		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.E111G	ENST00000216392.7	37	c.332	CCDS32080.1	14	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631495	0.87660	.	.	ENSG00000100504	ENST00000532462;ENST00000216392	D;D	0.94723	-3.5;-3.28	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	M	0.91354	3.2	0.80722	D	1	P;B	0.36483	0.555;0.386	B;B	0.30782	0.108;0.12	D	0.94596	0.7792	10	0.48119	T	0.1	-10.7054	15.544	0.76081	0.0:0.0:0.0:1.0	.	133;111	Q6P1L4;P06737	.;PYGL_HUMAN	G	111	ENSP00000431657:E111G;ENSP00000216392:E111G	ENSP00000216392:E111G	E	-	2	0	PYGL	50474217	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.915000	0.87484	2.324000	0.78689	0.533000	0.62120	GAG	PYGL	-	pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100504		0.398	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3		0.00	62	0	T	NM_002863		51404467	-1			no_errors	ENST00000216392	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	C
QSOX1	5768	genome.wustl.edu	37	1	180166101	180166101	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:180166101C>T	ENST00000367602.3	+	12	2247	c.2173C>T	c.(2173-2175)Ctg>Ttg	p.L725L	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	725					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATGGGCCTGCTGGCCATGTA	0.642																																																	0													49.0	63.0	58.0					1																	180166101		2174	4290	6464	SO:0001819	synonymous_variant	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.2173C>T	1.37:g.180166101C>T			Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.L725	ENST00000367602.3	37	c.2173	CCDS1337.1	1																																																																																			QSOX1	-	NULL	ENSG00000116260		0.642	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	-	0.00	115	0	C	NM_002826		180166101	+1	tier1	-	no_errors	ENST00000367602	ensembl	human	known	74_37	silent	19.44	58	14	SNP	1.000	T
RAB1A	5861	genome.wustl.edu	37	2	65331879	65331879	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:65331879G>T	ENST00000409784.3	-	2	275	c.85C>A	c.(85-87)Ctt>Att	p.L29I	RAB1A_ENST00000260638.8_Missense_Mutation_p.L29I|RAB1A_ENST00000494188.1_5'UTR|RAB1A_ENST00000398529.3_Missense_Mutation_p.L29I|RAB1A_ENST00000356214.7_Missense_Mutation_p.L29I|RAB1A_ENST00000409892.1_Missense_Mutation_p.L29I|RAB1A_ENST00000409751.1_Missense_Mutation_p.L29I	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	29					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						GCAAACCTAAGAAGAAGGCAA	0.299																																																	0													36.0	34.0	35.0					2																	65331879		1855	4104	5959	SO:0001583	missense	0			M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"""RAB, member RAS oncogene"""	9758	protein-coding gene	gene with protein product	"""Rab GTPase YPT1 homolog (yeast)"""	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.85C>A	2.37:g.65331879G>T	ENSP00000387286:p.Leu29Ile		P11476|Q6FIE7|Q96N61|Q9Y3T2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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.L29I	ENST00000409784.3	37	c.85	CCDS46306.1	2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976149	0.92982	.	.	ENSG00000138069	ENST00000409784;ENST00000409892;ENST00000409751;ENST00000398529;ENST00000260638;ENST00000356214	T;T;T;T;T;T	0.80304	-1.32;-1.32;-1.32;-1.36;-1.32;-1.32	5.81	5.81	0.92471	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85548	0.5722	L	0.28740	0.885	0.58432	D	0.999997	D;D;D;B	0.89917	1.0;0.993;0.969;0.106	D;D;P;B	0.97110	1.0;0.91;0.868;0.326	D	0.86525	0.1818	10	0.72032	D	0.01	.	19.6699	0.95907	0.0:0.0:1.0:0.0	.	29;29;29;29	B7Z8M7;P62820-2;P62820-3;P62820	.;.;.;RAB1A_HUMAN	I	29	ENSP00000387286:L29I;ENSP00000386451:L29I;ENSP00000386672:L29I;ENSP00000381540:L29I;ENSP00000260638:L29I;ENSP00000348546:L29I	ENSP00000260638:L29I	L	-	1	0	RAB1A	65185383	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.000000	0.93564	2.759000	0.94783	0.591000	0.81541	CTT	RAB1A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,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	ENSG00000138069		0.299	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1A	HGNC	protein_coding	OTTHUMT00000327572.1		0.00	41	0	G	NM_004161		65331879	-1			no_errors	ENST00000409784	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
RALGAPA1	253959	genome.wustl.edu	37	14	36244250	36244250	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:36244250G>T	ENST00000389698.3	-	3	619	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.Q77K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q77K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q77K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	77					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTCTCTTTGAGACTTGTGA	0.264																																																	0													34.0	38.0	37.0					14																	36244250		2196	4279	6475	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.229C>A	14.37:g.36244250G>T	ENSP00000374348:p.Gln77Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.Q77K	ENST00000389698.3	37	c.229	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690303	0.88735	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.57	5.57	0.84162	.	0.064000	0.64402	N	0.000005	T	0.80308	0.4599	M	0.79805	2.47	0.58432	D	0.999999	B;D;D;D	0.69078	0.0;0.975;0.997;0.994	B;D;D;D	0.77557	0.002;0.953;0.99;0.965	T	0.80023	-0.1556	10	0.42905	T	0.14	-6.4422	17.7863	0.88539	0.0:0.0:1.0:0.0	.	77;77;77;77	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	77	ENSP00000374348:Q77K;ENSP00000302647:Q77K;ENSP00000258840:Q77K;ENSP00000371803:Q77K;ENSP00000451877:Q77K	ENSP00000258840:Q77K	Q	-	1	0	RALGAPA1	35314001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.015000	0.76387	2.623000	0.88846	0.580000	0.79431	CAA	RALGAPA1	-	NULL	ENSG00000174373		0.264	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	0.00	91	0	G	XM_210022		36244250	-1	tier1	-	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
RALGAPB	57148	genome.wustl.edu	37	20	37153456	37153456	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:37153456A>G	ENST00000262879.6	+	11	1939	c.1655A>G	c.(1654-1656)aAt>aGt	p.N552S	RALGAPB_ENST00000397038.1_Missense_Mutation_p.N330S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.N552S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.N552S|RALGAPB_ENST00000537204.1_3'UTR			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	552					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGCAGATAAATGATTATGTG	0.338																																																	0													216.0	197.0	203.0					20																	37153456		2202	4300	6502	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1655A>G	20.37:g.37153456A>G	ENSP00000262879:p.Asn552Ser		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.N552S	ENST00000262879.6	37	c.1655	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	A	9.653	1.142047	0.21205	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.62639	0.01;0.01	5.4	4.31	0.51392	.	0.239991	0.44285	D	0.000475	T	0.31979	0.0814	N	0.03154	-0.405	0.31191	N	0.70097	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.23547	-1.0185	10	0.17369	T	0.5	.	6.2084	0.20615	0.593:0.3086:0.0983:0.0	.	380;552;552;552	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	S	552;552;552;330;552;380	ENSP00000262879:N552S;ENSP00000380233:N552S	ENSP00000262879:N552S	N	+	2	0	RALGAPB	36586870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.275000	0.58927	2.035000	0.60131	0.459000	0.35465	AAT	RALGAPB	-	superfamily_ARM-type_fold	ENSG00000170471		0.338	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	-	0.00	141	0	A	NM_020336		37153456	+1	tier1	-	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	7.14	104	8	SNP	1.000	G
RCHY1	25898	genome.wustl.edu	37	4	76439454	76439454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr4:76439454G>A	ENST00000324439.5	-	1	441	c.43C>T	c.(43-45)Cga>Tga	p.R15*	THAP6_ENST00000514480.1_5'Flank|THAP6_ENST00000380837.3_5'Flank|RCHY1_ENST00000513257.1_Nonsense_Mutation_p.R15*|THAP6_ENST00000507557.1_5'Flank|RCHY1_ENST00000514021.1_Intron|RCHY1_ENST00000451788.1_Nonsense_Mutation_p.R15*|THAP6_ENST00000507556.1_5'Flank|THAP6_ENST00000502620.1_5'Flank|RCHY1_ENST00000512706.1_Silent_p.S7S|THAP6_ENST00000311638.3_5'Flank|THAP6_ENST00000504190.1_5'Flank|THAP6_ENST00000507885.1_5'Flank|THAP6_ENST00000508105.1_5'Flank|RCHY1_ENST00000380840.2_Nonsense_Mutation_p.R15*	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	15					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGCTGACCTCGCTCTTGACCG	0.612																																																	0													88.0	77.0	81.0					4																	76439454		2203	4300	6503	SO:0001587	stop_gained	0			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.43C>T	4.37:g.76439454G>A	ENSP00000321239:p.Arg15*		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Nonsense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R15*	ENST00000324439.5	37	c.43	CCDS3567.1	4	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538035	0.65085	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000380840;ENST00000513257;ENST00000507014	.	.	.	4.28	3.4	0.38934	.	0.762404	0.11702	N	0.537851	.	.	.	.	.	.	0.22066	N	0.999382	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.768	8.9908	0.36022	0.0:0.0:0.7792:0.2208	.	.	.	.	X	15	.	ENSP00000321239:R15X	R	-	1	2	RCHY1	76658478	0.004000	0.15560	0.017000	0.16124	0.346000	0.29079	1.495000	0.35627	0.942000	0.37525	0.555000	0.69702	CGA	RCHY1	-	NULL	ENSG00000163743		0.612	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2		0.00	45	0	G	NM_015436		76439454	-1			no_errors	ENST00000324439	ensembl	human	known	74_37	nonsense	12.77	41	6	SNP	0.006	A
RECQL5	9400	genome.wustl.edu	37	17	73662528	73662528	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:73662528G>A	ENST00000317905.5	-	2	269	c.110C>T	c.(109-111)gCg>gTg	p.A37V	RECQL5_ENST00000420326.2_Missense_Mutation_p.A37V|RECQL5_ENST00000340830.5_Missense_Mutation_p.A37V|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000584999.1_Missense_Mutation_p.A37V|SAP30BP_ENST00000584667.1_5'Flank|RECQL5_ENST00000423245.2_Missense_Mutation_p.A37V	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	37					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCCATGGTCGCACTCTCCTG	0.493								Other identified genes with known or suspected DNA repair function																																									0													113.0	107.0	109.0					17																	73662528		2203	4300	6503	SO:0001583	missense	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.110C>T	17.37:g.73662528G>A	ENSP00000317636:p.Ala37Val		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,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,tigrfam_DNA_helicase_ATP-dep_RecQ	p.A37V	ENST00000317905.5	37	c.110	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841605	0.51057	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T;T	0.62364	0.03;2.35;2.35;2.35	5.41	4.41	0.53225	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.256644	0.39615	N	0.001307	T	0.69824	0.3154	L	0.39245	1.2	0.80722	D	1	D;D;P	0.76494	0.995;0.999;0.956	P;D;P	0.67900	0.844;0.954;0.666	T	0.68394	-0.5420	10	0.33940	T	0.23	-17.0794	15.5106	0.75779	0.0:0.0:0.8605:0.1395	.	37;37;37	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	V	37	ENSP00000394820:A37V;ENSP00000317636:A37V;ENSP00000414933:A37V;ENSP00000341983:A37V	ENSP00000317636:A37V	A	-	2	0	RECQL5	71174123	1.000000	0.71417	0.943000	0.38184	0.979000	0.70002	5.985000	0.70556	1.355000	0.45865	0.561000	0.74099	GCG	RECQL5	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000108469		0.493	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	-	0.00	50	0	G	NM_004259		73662528	-1	tier1	-	no_errors	ENST00000317905	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.990	A
RNGTT	8732	genome.wustl.edu	37	6	89600276	89600276	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:89600276C>T	ENST00000369485.4	-	8	1020	c.834G>A	c.(832-834)aaG>aaA	p.K278K	RNGTT_ENST00000369475.3_Silent_p.K278K|RNGTT_ENST00000538899.1_Silent_p.K218K|RNGTT_ENST00000265607.6_Silent_p.K278K	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	278	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAATATTTTGCTTGTCCATGG	0.383																																																	0													102.0	93.0	96.0					6																	89600276		2203	4300	6503	SO:0001819	synonymous_variant	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.834G>A	6.37:g.89600276C>T			E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase	p.K278	ENST00000369485.4	37	c.834	CCDS5017.1	6																																																																																			RNGTT	-	pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc	ENSG00000111880		0.383	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1		0.00	49	0	C			89600276	-1			no_errors	ENST00000369485	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T
RPA4	29935	genome.wustl.edu	37	X	96140055	96140055	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chrX:96140055A>G	ENST00000373040.3	+	1	1149	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	249					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGCCACATCTATCCCACTGTG	0.498								Other identified genes with known or suspected DNA repair function																																									0													90.0	80.0	84.0					X																	96140055		2203	4300	6503	SO:0001583	missense	0			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.746A>G	X.37:g.96140055A>G	ENSP00000362131:p.Tyr249Cys		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32	p.Y249C	ENST00000373040.3	37	c.746	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983773	0.53827	.	.	ENSG00000204086	ENST00000373040	T	0.74315	-0.83	3.52	2.31	0.28768	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.66607	0.2806	L	0.58510	1.815	0.09310	N	1	P	0.42908	0.793	B	0.39119	0.291	T	0.59867	-0.7373	9	0.87932	D	0	-24.7545	5.0577	0.14540	0.8606:0.0:0.1394:0.0	.	249	Q13156	RFA4_HUMAN	C	249	ENSP00000362131:Y249C	ENSP00000362131:Y249C	Y	+	2	0	RPA4	96026711	0.979000	0.34478	0.006000	0.13384	0.534000	0.34807	0.799000	0.27028	0.528000	0.28580	0.486000	0.48141	TAT	RPA4	-	pfam_RPA_C,pirsf_RPA32	ENSG00000204086		0.498	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	-	0.00	23	0	A	NM_013347		96140055	+1	tier1	-	no_errors	ENST00000373040	ensembl	human	known	74_37	missense	72.73	3	8	SNP	0.007	G
RPL12P38	645688	genome.wustl.edu	37	17	58512419	58512419	+	RNA	DEL	A	A	-	rs111246796		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:58512419delA	ENST00000588627.1	-	0	938									ribosomal protein L12 pseudogene 38																		AACGTAGCTTAAAAAAAAAAA	0.318																																																	0																																												0					17q23.2	2013-01-23			ENSG00000213228	ENSG00000213228			36838	pseudogene	pseudogene						19123937	Standard	NG_010298		Approved				OTTHUMG00000157897		17.37:g.58512419delA				RNA	DEL	-	NULL	ENST00000588627.1	37	NULL		17																																																																																			RPL12P38	-	-	ENSG00000213228		0.318	RPL12P38-002	KNOWN	basic	processed_transcript	RPL12P38	HGNC	pseudogene	OTTHUMT00000449464.1		0.00	19	0	A	NG_010298		58512419	-1	tier1		no_errors	ENST00000588627	ensembl	human	known	74_37	rna	22.73	17	5	DEL	0.998	-
RPL6	6128	genome.wustl.edu	37	12	112843140	112843140	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:112843140G>T	ENST00000424576.2	-	7	940	c.755C>A	c.(754-756)gCt>gAt	p.A252D	RPL6_ENST00000202773.9_Missense_Mutation_p.A252D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	252				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188). {ECO:0000305}.	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)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TGAGTCCACAGCTTTCTGATC	0.378																																																	0													22.0	24.0	23.0					12																	112843140		2182	4278	6460	SO:0001583	missense	0			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.755C>A	12.37:g.112843140G>T	ENSP00000403172:p.Ala252Asp		Q2M3Q3|Q8WW97	Missense_Mutation	SNP	pfam_60S_ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.A252D	ENST00000424576.2	37	c.755	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999045	0.54147	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.32023	1.47;1.47	5.15	4.26	0.50523	.	0.274240	0.41396	D	0.000881	T	0.40448	0.1117	M	0.87328	2.875	0.44098	D	0.996866	B	0.17852	0.024	B	0.24269	0.052	T	0.33369	-0.9871	10	0.39692	T	0.17	.	11.7667	0.51935	0.081:0.0:0.919:0.0	.	252	Q02878	RL6_HUMAN	D	252;252;192	ENSP00000202773:A252D;ENSP00000403172:A252D	ENSP00000202773:A252D	A	-	2	0	RPL6	111327523	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.012000	0.57131	1.179000	0.42884	0.591000	0.81541	GCT	RPL6	-	pfam_60S_ribosomal_L6E	ENSG00000089009		0.378	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1		0.00	34	0	G			112843140	-1			no_errors	ENST00000202773	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
RRNAD1	51093	genome.wustl.edu	37	1	156703182	156703182	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:156703182G>T	ENST00000368216.4	+	5	1136	c.506G>T	c.(505-507)cGc>cTc	p.R169L	RRNAD1_ENST00000476229.1_Missense_Mutation_p.R46L|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R169L	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	169						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CATCTCTCCCGCTTCATGGCT	0.602																																																	0													74.0	79.0	77.0					1																	156703182		2203	4300	6503	SO:0001583	missense	0			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.506G>T	1.37:g.156703182G>T	ENSP00000357199:p.Arg169Leu		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	NULL	p.R169L	ENST00000368216.4	37	c.506	CCDS1154.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.625364|4.625364	0.87560|0.87560	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000522237|ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229	.|T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Ribosomal RNA adenine methylase transferase, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67021|0.67021	0.2849|0.2849	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.91635	.|0.999;0.99	T|T	0.74797|0.74797	-0.3543|-0.3543	5|10	.|0.62326	.|D	.|0.03	-18.3787|-18.3787	16.4887|16.4887	0.84193|0.84193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|169;169	.|Q4VX71;Q96FB5	.|.;RRNAD_HUMAN	S|L	56|169;169;148;67;46	.|ENSP00000357201:R169L;ENSP00000357199:R169L;ENSP00000429756:R148L;ENSP00000429053:R67L	.|ENSP00000357199:R169L	A|R	+|+	1|2	0|0	RRNAD1|RRNAD1	154969806|154969806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.679000|5.679000	0.68160|0.68160	2.490000|2.490000	0.84030|0.84030	0.561000|0.561000	0.74099|0.74099	GCT|CGC	RRNAD1	-	NULL	ENSG00000143303		0.602	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1		0.00	32	0	G	NM_015997		156703182	+1			no_errors	ENST00000368216	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T
RXFP2	122042	genome.wustl.edu	37	13	32365960	32365960	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr13:32365960G>A	ENST00000298386.2	+	15	1234	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.R364Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	388					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAAAACTTTCGATACTGCTCC	0.423																																																	0													154.0	140.0	145.0					13																	32365960		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1163G>A	13.37:g.32365960G>A	ENSP00000298386:p.Arg388Gln		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.R388Q	ENST00000298386.2	37	c.1163	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	5.927	0.355019	0.11239	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.04406	4.3;3.63	5.62	4.78	0.61160	.	0.122998	0.56097	D	0.000022	T	0.02929	0.0087	N	0.05574	-0.02	0.46113	D	0.998876	B;B	0.24317	0.101;0.101	B;B	0.19391	0.025;0.015	T	0.54186	-0.8331	10	0.21014	T	0.42	.	12.2907	0.54817	0.082:0.0:0.918:0.0	.	364;388	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Q	364;388	ENSP00000369670:R364Q;ENSP00000298386:R388Q	ENSP00000298386:R388Q	R	+	2	0	RXFP2	31263960	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.473000	0.45145	1.396000	0.46663	-0.136000	0.14681	CGA	RXFP2	-	prints_Relaxin_rcpt	ENSG00000133105		0.423	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0.00	79	0	G	NM_130806		32365960	+1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	15.28	61	11	SNP	1.000	A
SCIN	85477	genome.wustl.edu	37	7	12680126	12680126	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:12680126T>C	ENST00000297029.5	+	11	1666	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	SCIN_ENST00000445618.2_Missense_Mutation_p.I275T|SCIN_ENST00000519209.1_Missense_Mutation_p.I275T	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	522	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTGGCATCTATCACCAGAATT	0.438																																																	0													50.0	49.0	49.0					7																	12680126		1889	4110	5999	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1565T>C	7.37:g.12680126T>C	ENSP00000297029:p.Ile522Thr		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.I522T	ENST00000297029.5	37	c.1565	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029770	0.35797	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.42131	0.98;0.98;0.98	4.84	4.84	0.62591	.	0.176364	0.47093	D	0.000250	T	0.51466	0.1676	L	0.27053	0.805	0.30602	N	0.76047	B	0.20988	0.05	P	0.52856	0.711	T	0.59643	-0.7416	10	0.23891	T	0.37	-5.9185	14.4187	0.67168	0.0:0.0:0.0:1.0	.	522	Q9Y6U3	ADSV_HUMAN	T	522;275;275	ENSP00000297029:I522T;ENSP00000430997:I275T;ENSP00000390189:I275T	ENSP00000297029:I522T	I	+	2	0	SCIN	12646651	0.930000	0.31532	0.996000	0.52242	0.916000	0.54674	1.861000	0.39438	1.810000	0.52873	0.459000	0.35465	ATC	SCIN	-	smart_Villin/Gelsolin	ENSG00000006747		0.438	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	-	0.00	51	0	T	NM_033128		12680126	+1	tier1	-	no_errors	ENST00000297029	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.895	C
SCN9A	6335	genome.wustl.edu	37	2	167056175	167056175	+	Silent	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:167056175G>A	ENST00000409435.1	-	26	4973	c.4974C>T	c.(4972-4974)taC>taT	p.Y1658Y	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.Y1659Y|SCN9A_ENST00000375387.4_Silent_p.Y1659Y|SCN9A_ENST00000409672.1_Silent_p.Y1647Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1658					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.Y1647Y(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGATGGCGTAGATGAACA	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)											167.0	165.0	166.0					2																	167056175		2203	4300	6503	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4974C>T	2.37:g.167056175G>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.Y1659	ENST00000409435.1	37	c.4977	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000169432		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0.00	147	0	G	NM_002977		167056175	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	silent	10.48	111	13	SNP	0.961	A
SDCCAG8	10806	genome.wustl.edu	37	1	243434327	243434327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:243434327G>T	ENST00000366541.3	+	3	386	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Nonsense_Mutation_p.E90*|SDCCAG8_ENST00000391846.1_Nonsense_Mutation_p.E90*	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	90					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAGGAAAGTGAAGTATCTCC	0.363																																																	0													135.0	123.0	127.0					1																	243434327		2203	4300	6503	SO:0001587	stop_gained	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.268G>T	1.37:g.243434327G>T	ENSP00000355499:p.Glu90*		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Nonsense_Mutation	SNP	NULL	p.E90*	ENST00000366541.3	37	c.268	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.518972	0.97633	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	.	.	.	5.52	4.6	0.57074	.	0.234154	0.44285	D	0.000472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.4153	11.6452	0.51257	0.0834:0.0:0.9166:0.0	.	.	.	.	X	90	.	ENSP00000348137:E90X	E	+	1	0	SDCCAG8	241500950	1.000000	0.71417	0.648000	0.29521	0.967000	0.64934	3.027000	0.49697	1.468000	0.48064	0.655000	0.94253	GAA	SDCCAG8	-	NULL	ENSG00000054282		0.363	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	-	0.00	31	0	G	NM_006642		243434327	+1	tier1	-	no_errors	ENST00000366541	ensembl	human	known	74_37	nonsense	12.12	29	4	SNP	0.968	T
SERPINB11	89778	genome.wustl.edu	37	18	61390626	61390626	+	RNA	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:61390626C>T	ENST00000382749.5	+	0	1417				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGCTTGCCTCTCCCTAATCA	0.498																																					Ovarian(27;496 784 5942 8975 23930)												0													125.0	114.0	118.0					18																	61390626		2107	4234	6341			0					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390626C>T			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S216F	ENST00000382749.5	37	c.647		18	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923111	0.73213	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;T;D	0.83755	-1.76;2.64;-1.76	5.46	4.57	0.56435	Serpin domain (3);	0.000000	0.56097	D	0.000036	D	0.90841	0.7123	M	0.79805	2.47	0.35551	D	0.803832	D;D;D;D	0.89917	1.0;0.999;0.976;0.998	D;D;P;D	0.77557	0.99;0.969;0.775;0.973	D	0.94400	0.7622	10	0.62326	D	0.03	.	14.8649	0.70406	0.1448:0.8552:0.0:0.0	.	216;189;304;391	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	F	391;189;216	ENSP00000441497:S391F;ENSP00000440795:S189F;ENSP00000441708:S216F	ENSP00000421854:S391F	S	+	2	0	SERPINB11	59541606	1.000000	0.71417	0.987000	0.45799	0.643000	0.38383	4.552000	0.60747	1.390000	0.46547	0.655000	0.94253	TCT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206072		0.498	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	-	0.00	22	0	C	NM_080475		61390626	+1	tier1	-	no_errors	ENST00000536691	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T
SERPING1	710	genome.wustl.edu	37	11	57367850	57367850	+	Splice_Site	SNP	G	G	A	rs281875170		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:57367850G>A	ENST00000278407.4	+	3	777	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	SERPING1_ENST00000378323.4_Splice_Site_p.G189R|SERPING1_ENST00000403558.1_Splice_Site_p.G218R|SERPING1_ENST00000340687.6_Splice_Site_p.G184R|SERPING1_ENST00000378324.2_Splice_Site_p.G132R	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	184			G -> R (in HAE; dbSNP:rs281875170). {ECO:0000269|PubMed:22994404}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGTCCTGCTCGGTAAGACCCT	0.522																																																	0			GRCh37	CS053489|CS961498	SERPING1	S							55.0	53.0	54.0					11																	57367850		2192	4286	6478	SO:0001630	splice_region_variant	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.550+1G>A	11.37:g.57367850G>A			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G184R	ENST00000278407.4	37	c.550	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657860	0.88154	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.79	5.79	0.91817	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.92691	3.335	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	0.98003	1.0361	10	0.87932	D	0	.	15.5247	0.75894	0.0:0.0:1.0:0.0	.	189;218;184;184	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	R	184;184;189;132;218	ENSP00000278407:G184R;ENSP00000341861:G184R;ENSP00000367574:G189R;ENSP00000367575:G132R;ENSP00000384420:G218R	ENSP00000278407:G184R	G	+	1	0	SERPING1	57124426	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.366000	0.66122	2.750000	0.94351	0.561000	0.74099	GGG	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000149131		0.522	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	-	0.00	73	0	G	NM_000062	Missense_Mutation	57367850	+1	tier1	-	no_errors	ENST00000278407	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A
SGCE	8910	genome.wustl.edu	37	7	94218011	94218011	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:94218011C>T	ENST00000265735.7	-	10	1397	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	SGCE_ENST00000445866.2_Silent_p.Q454Q|SGCE_ENST00000447873.1_Silent_p.Q420Q|SGCE_ENST00000437425.2_Silent_p.Q388Q|SGCE_ENST00000428696.2_Silent_p.Q420Q|SGCE_ENST00000415788.2_Silent_p.Q465Q	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	429					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGTAGTCTGCTGTTGGGGAA	0.308																																																	0													121.0	120.0	121.0					7																	94218011		2203	4300	6503	SO:0001819	synonymous_variant	0			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1287G>A	7.37:g.94218011C>T			B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.Q454	ENST00000265735.7	37	c.1362	CCDS5637.1	7																																																																																			SGCE	-	NULL	ENSG00000127990		0.308	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCE	HGNC	protein_coding	OTTHUMT00000255251.2		0.00	38	0	C			94218011	-1			no_errors	ENST00000445866	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T
SH2D3C	10044	genome.wustl.edu	37	9	130507210	130507210	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr9:130507210G>A	ENST00000314830.8	-	7	1546	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	SH2D3C_ENST00000429553.1_Missense_Mutation_p.A124V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A410V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A321V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A320V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A318V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	478					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGACGGGGAGGCCTTGCCAAG	0.662																																																	0													72.0	83.0	79.0					9																	130507210		2203	4300	6503	SO:0001583	missense	0			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1433C>T	9.37:g.130507210G>A	ENSP00000317817:p.Ala478Val		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.A478V	ENST00000314830.8	37	c.1433	CCDS6877.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.47|10.47	1.360345|1.360345	0.24598|0.24598	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830|ENST00000440630	T;T;T;T;T;T|.	0.23950|.	2.71;2.69;2.45;2.71;1.88;2.69|.	5.61|5.61	3.74|3.74	0.42951|0.42951	.|.	0.500458|.	0.24700|.	N|.	0.036304|.	T|T	0.45895|0.45895	0.1365|0.1365	L|L	0.51422|0.51422	1.61|1.61	0.31199|0.31199	N|N	0.699992|0.699992	B;P;B;P;B|.	0.45126|.	0.278;0.851;0.001;0.587;0.4|.	B;B;B;B;B|.	0.34180|.	0.034;0.166;0.001;0.177;0.11|.	T|T	0.49762|0.49762	-0.8905|-0.8905	10|5	0.30078|.	T|.	0.28|.	-0.6983|-0.6983	6.8738|6.8738	0.24135|0.24135	0.1518:0.1451:0.7032:0.0|0.1518:0.1451:0.7032:0.0	.|.	318;478;410;321;320|.	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5|.	.;SH2D3_HUMAN;.;.;.|.	V|S	321;320;410;318;124;478|315	ENSP00000362374:A321V;ENSP00000388536:A320V;ENSP00000362373:A410V;ENSP00000362371:A318V;ENSP00000394632:A124V;ENSP00000317817:A478V|.	ENSP00000317817:A478V|.	A|P	-|-	2|1	0|0	SH2D3C|SH2D3C	129547031|129547031	0.998000|0.998000	0.40836|0.40836	0.781000|0.781000	0.31783|0.31783	0.084000|0.084000	0.17831|0.17831	3.303000|3.303000	0.51858|0.51858	0.702000|0.702000	0.31825|0.31825	-0.379000|-0.379000	0.06801|0.06801	GCC|CCT	SH2D3C	-	NULL	ENSG00000095370		0.662	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1		0.00	74	0	G	NM_005489		130507210	-1			no_errors	ENST00000314830	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.789	A
SLC25A25	114789	genome.wustl.edu	37	9	130868491	130868491	+	Silent	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr9:130868491G>T	ENST00000373064.5	+	7	1124	c.861G>T	c.(859-861)ggG>ggT	p.G287G	SLC25A25_ENST00000432073.2_Silent_p.G307G|SLC25A25_ENST00000373069.5_Silent_p.G333G|SLC25A25_ENST00000373068.2_Silent_p.G321G|SLC25A25_ENST00000433501.1_Silent_p.G184G|SLC25A25_ENST00000373066.5_Silent_p.G319G|RP11-395P17.11_ENST00000602939.1_RNA	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	287					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTGTGGCAGGGTCCTTGGCAG	0.607																																																	0													139.0	150.0	146.0					9																	130868491		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.861G>T	9.37:g.130868491G>T			Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.G333	ENST00000373064.5	37	c.999	CCDS6890.1	9																																																																																			SLC25A25	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC	ENSG00000148339		0.607	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054407.1	-	0.00	78	0	G	NM_052901		130868491	+1	tier1	-	no_errors	ENST00000373069	ensembl	human	known	74_37	silent	33.33	46	23	SNP	0.996	T
SLC26A9	115019	genome.wustl.edu	37	1	205899089	205899089	+	Silent	SNP	C	C	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:205899089C>G	ENST00000367135.3	-	6	761	c.648G>C	c.(646-648)ctG>ctC	p.L216L	SLC26A9_ENST00000340781.4_Silent_p.L216L|SLC26A9_ENST00000367134.2_Silent_p.L216L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	216					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCACCGAAATCAGGATCTGCA	0.582																																																	0													76.0	67.0	70.0					1																	205899089		2203	4300	6503	SO:0001819	synonymous_variant	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.648G>C	1.37:g.205899089C>G			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L216	ENST00000367135.3	37	c.648	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000174502		0.582	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1		0.00	56	0	C	NM_052934		205899089	-1			no_errors	ENST00000340781	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.998	G
SNED1	25992	genome.wustl.edu	37	2	241969711	241969711	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:241969711A>T	ENST00000310397.8	+	2	224	c.224A>T	c.(223-225)aAc>aTc	p.N75I	SNED1_ENST00000342631.6_Missense_Mutation_p.N75I|SNED1_ENST00000401884.1_Missense_Mutation_p.N75I|SNED1_ENST00000405547.3_Missense_Mutation_p.N75I|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	75					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGAACAACAACGGGATCATC	0.642																																																	0													28.0	31.0	30.0					2																	241969711		1999	4155	6154	SO:0001583	missense	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.224A>T	2.37:g.241969711A>T	ENSP00000308893:p.Asn75Ile		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.N75I	ENST00000310397.8	37	c.224	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464883	0.84425	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.16	5.16	0.70880	.	.	.	.	.	D	0.92685	0.7675	M	0.91038	3.17	0.48975	D	0.99973	D	0.89917	1.0	D	0.91635	0.999	D	0.94293	0.7530	9	0.87932	D	0	.	14.9987	0.71455	1.0:0.0:0.0:0.0	.	75	Q8TER0	SNED1_HUMAN	I	75	ENSP00000384871:N75I;ENSP00000386007:N75I;ENSP00000308893:N75I;ENSP00000342992:N75I	ENSP00000308893:N75I	N	+	2	0	SNED1	241618384	1.000000	0.71417	0.630000	0.29268	0.946000	0.59487	8.951000	0.93025	1.947000	0.56498	0.533000	0.62120	AAC	SNED1	-	NULL	ENSG00000162804		0.642	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	-	0.00	98	0	A	XM_059482		241969711	+1	tier1	-	no_errors	ENST00000310397	ensembl	human	known	74_37	missense	12.79	75	11	SNP	1.000	T
SORT1	6272	genome.wustl.edu	37	1	109867695	109867695	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:109867695C>T	ENST00000256637.6	-	14	1718	c.1660G>A	c.(1660-1662)Ggt>Agt	p.G554S	SORT1_ENST00000538502.1_Missense_Mutation_p.G417S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	554					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CAGCATTGACCTTCGTCTGTG	0.468																																																	0													80.0	76.0	78.0					1																	109867695		2203	4300	6503	SO:0001583	missense	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1660G>A	1.37:g.109867695C>T	ENSP00000256637:p.Gly554Ser		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.G554S	ENST00000256637.6	37	c.1660	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.402204	0.96030	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.48522	0.81;0.81	5.73	5.73	0.89815	VPS10 (1);	0.046152	0.85682	D	0.000000	T	0.69459	0.3113	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73811	-0.3865	10	0.87932	D	0	-16.6863	18.6732	0.91519	0.0:1.0:0.0:0.0	.	417;554	B4DWI3;Q99523	.;SORT_HUMAN	S	554;417	ENSP00000256637:G554S;ENSP00000438597:G417S	ENSP00000256637:G554S	G	-	1	0	SORT1	109669218	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.149000	0.77396	2.707000	0.92482	0.561000	0.74099	GGT	SORT1	-	pfam_BNR_rpt,smart_VPS10	ENSG00000134243		0.468	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1		0.00	39	0	C	NM_002959		109867695	-1			no_errors	ENST00000256637	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
SPNS1	83985	genome.wustl.edu	37	16	28993282	28993282	+	Silent	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:28993282G>T	ENST00000311008.11	+	7	1247	c.870G>T	c.(868-870)ctG>ctT	p.L290L	SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000565975.1_Silent_p.L335L|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000323081.8_Silent_p.L217L|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	290					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CGGGCTCCCTGGCTCTGTGGG	0.627											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													139.0	120.0	127.0					16																	28993282		2197	4300	6497	SO:0001819	synonymous_variant	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.870G>T	16.37:g.28993282G>T		806	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L290	ENST00000311008.11	37	c.870	CCDS10646.1	16																																																																																			SPNS1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000169682		0.627	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2		0.00	117	0	G	NM_032038		28993282	+1			no_errors	ENST00000311008	ensembl	human	known	74_37	silent	5.26	90	5	SNP	1.000	T
ST18	9705	genome.wustl.edu	37	8	53050009	53050009	+	Missense_Mutation	SNP	C	C	T	rs369893285		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:53050009C>T	ENST00000276480.7	-	18	2886	c.2203G>A	c.(2203-2205)Gtg>Atg	p.V735M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	735					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTCCTGTCACGTGGCCACTT	0.433																																																	0								C	MET/VAL	0,4406		0,0,2203	171.0	137.0	148.0		2203	5.9	1.0	8		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST18	NM_014682.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	735/1048	53050009	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2203G>A	8.37:g.53050009C>T	ENSP00000276480:p.Val735Met		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.V735M	ENST00000276480.7	37	c.2203	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985525	0.93044	0.0	1.16E-4	ENSG00000147488	ENST00000276480	T	0.56941	0.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73418	-0.3989	10	0.51188	T	0.08	-20.6028	20.3053	0.98627	0.0:1.0:0.0:0.0	.	735	O60284	ST18_HUMAN	M	735	ENSP00000276480:V735M	ENSP00000276480:V735M	V	-	1	0	ST18	53212562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.677000	0.84024	2.808000	0.96608	0.655000	0.94253	GTG	ST18	-	pfam_Znf_C2HC	ENSG00000147488		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0.00	72	0	C			53050009	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	20.93	68	18	SNP	1.000	T
STAG1	10274	genome.wustl.edu	37	3	136141859	136141859	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:136141859G>C	ENST00000383202.2	-	17	1934	c.1678C>G	c.(1678-1680)Caa>Gaa	p.Q560E	STAG1_ENST00000434713.2_Missense_Mutation_p.Q334E|STAG1_ENST00000236698.5_Missense_Mutation_p.Q560E|STAG1_ENST00000536929.1_Missense_Mutation_p.Q144E	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	560					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCATCAATTTGAGTTTTCCTT	0.294																																																	0													106.0	100.0	102.0					3																	136141859		2201	4295	6496	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1678C>G	3.37:g.136141859G>C	ENSP00000372689:p.Gln560Glu		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Q560E	ENST00000383202.2	37	c.1678	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392529	0.62066	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.71	5.71	0.89125	Armadillo-type fold (1);	0.054391	0.85682	N	0.000000	T	0.18676	0.0448	L	0.55103	1.725	0.80722	D	1	B;B;B	0.17038	0.01;0.02;0.01	B;B;B	0.20577	0.03;0.02;0.03	T	0.15521	-1.0434	10	0.02654	T	1	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	577;560;560	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	E	560;560;334;144	ENSP00000372689:Q560E;ENSP00000236698:Q560E;ENSP00000404396:Q334E;ENSP00000445787:Q144E	ENSP00000236698:Q560E	Q	-	1	0	STAG1	137624549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.707000	0.92482	0.650000	0.86243	CAA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.294	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1		0.00	76	0	G	NM_005862		136141859	-1			no_errors	ENST00000383202	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	C
SUPT16H	11198	genome.wustl.edu	37	14	21834640	21834640	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:21834640delT	ENST00000216297.2	-	8	1342	c.1004delA	c.(1003-1005)aagfs	p.K335fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	335					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGGCTTCTGCTTTTTAACCAC	0.373																																																	0													239.0	214.0	223.0					14																	21834640		2203	4300	6503	SO:0001589	frameshift_variant	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1004delA	14.37:g.21834640delT	ENSP00000216297:p.Lys335fs		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Del	DEL	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.K335fs	ENST00000216297.2	37	c.1004	CCDS9569.1	14																																																																																			SUPT16H	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000092201		0.373	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2		0.00	25	0	T			21834640	-1	tier1		no_errors	ENST00000216297	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	1.000	-
TBC1D32	221322	genome.wustl.edu	37	6	121638672	121638672	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:121638672T>C	ENST00000398212.2	-	3	513	c.464A>G	c.(463-465)aAt>aGt	p.N155S	TBC1D32_ENST00000275159.6_Missense_Mutation_p.N155S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	155					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATCAGAGCAATTGTCTGTGCG	0.328																																																	0													302.0	275.0	284.0					6																	121638672		1863	4093	5956	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.464A>G	6.37:g.121638672T>C	ENSP00000381270:p.Asn155Ser		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.N155S	ENST00000398212.2	37	c.464	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	T	9.991	1.230866	0.22542	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.23552	1.9;1.9;1.9	5.02	3.85	0.44370	.	0.048831	0.85682	D	0.000000	T	0.08403	0.0209	L	0.58669	1.825	0.45366	D	0.998351	B	0.32467	0.372	B	0.27076	0.076	T	0.06058	-1.0848	10	0.06891	T	0.86	-19.6887	10.9883	0.47534	0.0:0.0739:0.0:0.9261	.	155	Q96NH3	BROMI_HUMAN	S	155	ENSP00000275159:N155S;ENSP00000381270:N155S;ENSP00000397993:N155S	ENSP00000275159:N155S	N	-	2	0	C6orf170	121680371	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.251000	0.65438	0.853000	0.35312	0.533000	0.62120	AAT	TBC1D32	-	NULL	ENSG00000146350		0.328	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0.00	134	0	T	NM_152730		121638672	-1	tier1	-	no_errors	ENST00000275159	ensembl	human	putative	74_37	missense	5.00	95	5	SNP	1.000	C
THAP4	51078	genome.wustl.edu	37	2	242573291	242573292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:242573291_242573292insC	ENST00000407315.1	-	2	711_712	c.280_281insG	c.(280-282)gctfs	p.A94fs		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	94							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-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;0.0844)		ATGGCCTCCAGCCCCCCTCTTC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.281dupG	2.37:g.242573297_242573297dupC	ENSP00000385006:p.Ala94fs		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Frame_Shift_Ins	INS	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A94fs	ENST00000407315.1	37	c.281_280	CCDS2551.1	2																																																																																			THAP4	-	NULL	ENSG00000176946		0.639	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3		0.00	65	0	-	NM_015963		242573292	-1	tier1		no_errors	ENST00000407315	ensembl	human	known	74_37	frame_shift_ins	21.31	48	13	INS	0.000:0.000	C
TLL2	7093	genome.wustl.edu	37	10	98144480	98144480	+	Silent	SNP	G	G	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:98144480G>A	ENST00000357947.3	-	16	2283	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	686	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTTGGCGTCGGGGGACAGGC	0.627																																																	0													113.0	109.0	110.0					10																	98144480		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2058C>T	10.37:g.98144480G>A			A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.P686	ENST00000357947.3	37	c.2058	CCDS7449.1	10																																																																																			TLL2	-	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000095587		0.627	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	-	0.00	47	0	G			98144480	-1	tier1	-	no_errors	ENST00000357947	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.508	A
TMEM131	23505	genome.wustl.edu	37	2	98409874	98409874	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:98409874T>C	ENST00000186436.5	-	30	3757	c.3529A>G	c.(3529-3531)Att>Gtt	p.I1177V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1177						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAGATGAAATACCAACGATT	0.408																																																	0													86.0	86.0	86.0					2																	98409874		1865	4092	5957	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3529A>G	2.37:g.98409874T>C	ENSP00000186436:p.Ile1177Val			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.I1177V	ENST00000186436.5	37	c.3529	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.200823	0.79015	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.32988	1.43	6.07	4.92	0.64577	.	0.046751	0.85682	N	0.000000	T	0.30417	0.0764	M	0.61703	1.905	0.80722	D	1	B	0.14012	0.009	B	0.17433	0.018	T	0.06972	-1.0797	10	0.18710	T	0.47	-12.9431	11.9689	0.53051	0.0:0.0681:0.0:0.9319	.	1177	Q92545	TM131_HUMAN	V	1177;94	ENSP00000186436:I1177V	ENSP00000186436:I1177V	I	-	1	0	TMEM131	97776306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.485000	0.66850	1.114000	0.41781	0.533000	0.62120	ATT	TMEM131	-	NULL	ENSG00000075568		0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0.00	89	0	T	XM_371542		98409874	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	missense	9.01	101	10	SNP	1.000	C
TMEM184A	202915	genome.wustl.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																																	0																																										SO:0001652	inframe_insertion	0				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup		Q8TBQ6	In_Frame_Ins	INS	pfam_Ost-alpha	p.392in_frame_insG	ENST00000297477.5	37	c.1177_1176	CCDS43537.1	7																																																																																			TMEM184A	-	NULL	ENSG00000164855		0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4		0.00	10	0	-	NM_152689		1586654	-1	tier1		no_errors	ENST00000297477	ensembl	human	known	74_37	in_frame_ins	38.46	8	5	INS	0.000:0.000	GCC
TNK2	10188	genome.wustl.edu	37	3	195615459	195615459	+	Start_Codon_SNP	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:195615459T>C	ENST00000333602.6	-	2	618	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TNK2_ENST00000428187.1_Missense_Mutation_p.M33V|TNK2_ENST00000381916.2_Missense_Mutation_p.M64V|TNK2_ENST00000392400.1_Start_Codon_SNP_p.M1V|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000316664.3_Start_Codon_SNP_p.M1V	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1	SAM-like domain.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTGGCTGCATTCTGCCGCCT	0.652																																																	0													23.0	23.0	23.0					3																	195615459		2182	4235	6417	SO:0001582	initiator_codon_variant	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1A>G	3.37:g.195615459T>C	ENSP00000329425:p.Met1Val		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.M64V	ENST00000333602.6	37	c.190	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069077	0.55539	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000428187;ENST00000392400;ENST00000316664;ENST00000433111;ENST00000427576	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	.	.	.	0.80722	D	1	D;D;D;D	0.63880	0.982;0.989;0.993;0.989	D;D;D;D	0.73708	0.961;0.958;0.981;0.977	T	0.66168	-0.5991	9	0.87932	D	0	.	14.0202	0.64550	0.0:0.0:0.0:1.0	.	1;1;64;33	Q07912-2;Q07912;Q07912-3;C9J1X3	.;ACK1_HUMAN;.;.	V	1;64;33;1;1;1;65	ENSP00000329425:M1V;ENSP00000371341:M64V;ENSP00000392546:M33V;ENSP00000376201:M1V;ENSP00000323216:M1V;ENSP00000395154:M1V;ENSP00000390088:M65V	ENSP00000323216:M1V	M	-	1	0	TNK2	197099856	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	7.715000	0.84713	1.920000	0.55613	0.260000	0.18958	ATG	TNK2	-	NULL	ENSG00000061938		0.652	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	-	0.00	51	0	T	NM_005781	Missense_Mutation	195615459	-1	tier1	-	no_errors	ENST00000381916	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)											50.0	52.0	51.0					17																	7578461		2202	4300	6502	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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		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.V157F	ENST00000269305.4	37	c.469	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	446	0	C	NM_000546		7578461	-1	tier1	rs121912654	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	29.91	299	128	SNP	0.032	A
TRIM68	55128	genome.wustl.edu	37	11	4622317	4622317	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:4622317G>C	ENST00000300747.5	-	6	1136	c.847C>G	c.(847-849)Ctg>Gtg	p.L283V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	283					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCAACTCCAGGGAGATTGGT	0.552																																																	0													127.0	122.0	124.0					11																	4622317		2201	4298	6499	SO:0001583	missense	0			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.847C>G	11.37:g.4622317G>C	ENSP00000300747:p.Leu283Val		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.L283V	ENST00000300747.5	37	c.847	CCDS31356.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766169	0.49574	.	.	ENSG00000167333	ENST00000300747;ENST00000526337	T;T	0.04654	3.58;3.58	5.0	-2.94	0.05581	.	0.000000	0.40469	N	0.001084	T	0.03053	0.0090	L	0.35593	1.075	0.27680	N	0.946483	B	0.33345	0.409	B	0.34489	0.184	T	0.41034	-0.9531	10	0.26408	T	0.33	.	5.1927	0.15218	0.5402:0.0:0.3073:0.1525	.	283	Q6AZZ1	TRI68_HUMAN	V	283;60	ENSP00000300747:L283V;ENSP00000434681:L60V	ENSP00000300747:L283V	L	-	1	2	TRIM68	4578893	0.270000	0.24152	0.904000	0.35570	0.763000	0.43281	-0.355000	0.07671	-0.334000	0.08463	-0.224000	0.12420	CTG	TRIM68	-	NULL	ENSG00000167333		0.552	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1		0.00	53	0	G	NM_018073		4622317	-1			no_errors	ENST00000300747	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.950	C
TRIM8	81603	genome.wustl.edu	37	10	104404515	104404515	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:104404515C>T	ENST00000302424.7	+	1	263	c.141C>T	c.(139-141)agC>agT	p.S47S	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	47					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGGACAGCGGCCTCGTAC	0.612																																																	0													36.0	39.0	38.0					10																	104404515		2203	4300	6503	SO:0001819	synonymous_variant	0			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.141C>T	10.37:g.104404515C>T			A6NI31|Q9C028	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S47	ENST00000302424.7	37	c.141	CCDS31274.1	10																																																																																			TRIM8	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000171206		0.612	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM8	HGNC	protein_coding	OTTHUMT00000050084.3	-	0.00	46	0	C	NM_030912		104404515	+1	tier1	-	no_errors	ENST00000302424	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.994	T
TRMT13	54482	genome.wustl.edu	37	1	100613525	100613525	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:100613525G>T	ENST00000370141.2	+	10	899	c.893G>T	c.(892-894)cGc>cTc	p.R298L		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	298					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TTAGCCAAACGCATAAAGAAT	0.403																																																	0													68.0	71.0	70.0					1																	100613525		2203	4300	6503	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.893G>T	1.37:g.100613525G>T	ENSP00000359160:p.Arg298Leu		Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.R298L	ENST00000370141.2	37	c.893	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309552	0.81247	.	.	ENSG00000122435	ENST00000370141	T	0.44482	0.92	5.97	5.97	0.96955	Methyltransferase TRM13 (1);	0.055091	0.64402	D	0.000001	T	0.51109	0.1655	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.62435	0.902	T	0.50092	-0.8868	10	0.51188	T	0.08	-8.7434	13.6104	0.62074	0.0704:0.0:0.9296:0.0	.	298	Q9NUP7	TRM13_HUMAN	L	298	ENSP00000359160:R298L	ENSP00000359160:R298L	R	+	2	0	CCDC76	100386113	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.375000	0.59549	2.836000	0.97738	0.655000	0.94253	CGC	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.403	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1		0.00	34	0	G	NM_019083		100613525	+1			no_errors	ENST00000370141	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.996	T
TRMT61A	115708	genome.wustl.edu	37	14	103996454	103996454	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:103996454G>T	ENST00000389749.4	+	2	246	c.139G>T	c.(139-141)Gtt>Ttt	p.V47F	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	47						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						GCGGCACTCAGTTGACCTTAT	0.662																																																	0													54.0	60.0	58.0					14																	103996454		2200	4295	6495	SO:0001583	missense	0			AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.139G>T	14.37:g.103996454G>T	ENSP00000374399:p.Val47Phe		A6NN78|Q8N7Q9	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14	p.V47F	ENST00000389749.4	37	c.139	CCDS41994.1	14	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159058	0.21454	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.42900	0.96	3.9	3.9	0.45041	.	0.389087	0.23866	N	0.043787	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.32425	0.371	B	0.35182	0.197	T	0.20273	-1.0280	10	0.09590	T	0.72	-26.3928	4.6428	0.12558	0.2886:0.0:0.7114:0.0	.	47	Q96FX7	TRM61_HUMAN	F	47	ENSP00000374399:V47F	ENSP00000299201:V47F	V	+	1	0	TRMT61A	103066207	0.058000	0.20735	0.191000	0.23289	0.968000	0.65278	2.259000	0.43259	2.009000	0.58944	0.462000	0.41574	GTT	TRMT61A	-	pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14	ENSG00000166166		0.662	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61A	HGNC	protein_coding	OTTHUMT00000414988.1	-	0.00	60	0	G	NM_152307		103996454	+1	tier1	-	no_errors	ENST00000389749	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.022	T
TROVE2	6738	genome.wustl.edu	37	1	193053996	193053997	+	3'UTR	INS	-	-	A	rs201693727|rs78476132|rs549404223		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:193053996_193053997insA	ENST00000367446.3	+	0	1962_1963				TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367441.1_3'UTR|TROVE2_ENST00000400968.2_3'UTR|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000432079.1_3'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTACCTTACTGAAAAAAAAAAA	0.361																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*136->A	1.37:g.193054007_193054007dupA			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	INS	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			TROVE2	-	-	ENSG00000116747		0.361	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1		0.00	26	0	-	NM_004600		193053997	+1	tier1		no_errors	ENST00000460715	ensembl	human	known	74_37	rna	16.67	25	5	INS	0.000:0.000	A
TTN	7273	genome.wustl.edu	37	2	179441478	179441478	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:179441478C>G	ENST00000591111.1	-	275	64794	c.64570G>C	c.(64570-64572)Gat>Cat	p.D21524H	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D14225H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20597H|TTN_ENST00000342175.6_Missense_Mutation_p.D14292H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D14100H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D23165H|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21524	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCATCATCCACTGGCCTT	0.458																																																	0													121.0	118.0	119.0					2																	179441478		1928	4159	6087	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64570G>C	2.37:g.179441478C>G	ENSP00000465570:p.Asp21524His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D20597H	ENST00000591111.1	37	c.61789		2	.	.	.	.	.	.	.	.	.	.	C	8.568	0.879322	0.17467	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63686	0.2532	L	0.41824	1.3	0.51767	D	0.999933	D;D;D;D	0.60575	0.988;0.988;0.988;0.988	P;P;P;P	0.59288	0.855;0.855;0.855;0.855	T	0.64905	-0.6297	9	0.87932	D	0	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	14100;14225;14292;21524	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	20597;14100;14292;14225;14098	ENSP00000343764:D20597H;ENSP00000434586:D14100H;ENSP00000340554:D14292H;ENSP00000352154:D14225H	ENSP00000340554:D14292H	D	-	1	0	TTN	179149724	0.981000	0.34729	0.968000	0.41197	0.586000	0.36452	2.476000	0.45171	2.814000	0.96858	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	45	0	C	NM_133378		179441478	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.975	G
TTN	7273	genome.wustl.edu	37	2	179611634	179611634	+	Intron	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:179611634C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D5165N|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAATGAATCGGAACGCCAT	0.398																																																	0													119.0	116.0	117.0					2																	179611634		2203	4299	6502	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4986G>A	2.37:g.179611634C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D5165N	ENST00000591111.1	37	c.15493		2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380198	0.42207	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.95	5.95	0.96441	.	.	.	.	.	T	0.41236	0.1150	N	0.24115	0.695	0.80722	D	1	P	0.47106	0.89	B	0.39503	0.301	T	0.42999	-0.9418	9	0.02654	T	1	.	18.5659	0.91116	0.0:1.0:0.0:0.0	.	5165	Q8WZ42-6	.	N	5165;446	ENSP00000354117:D5165N	ENSP00000304714:D446N	D	-	1	0	TTN	179319879	0.789000	0.28775	0.968000	0.41197	0.553000	0.35397	1.677000	0.37576	2.825000	0.97269	0.655000	0.94253	GAT	TTN	-	NULL	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	85	0	C	NM_133378		179611634	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	17.11	63	13	SNP	0.959	T
TTPAL	79183	genome.wustl.edu	37	20	43115335	43115335	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:43115335A>G	ENST00000372904.3	+	5	882	c.739A>G	c.(739-741)Ata>Gta	p.I247V	TTPAL_ENST00000262605.4_Missense_Mutation_p.I247V|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	247	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAAGGAGAAAATAGCAAACAG	0.353																																																	0													69.0	66.0	67.0					20																	43115335		2203	4300	6503	SO:0001583	missense	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.739A>G	20.37:g.43115335A>G	ENSP00000361995:p.Ile247Val		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.I247V	ENST00000372904.3	37	c.739	CCDS13332.2	20	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373430	0.61624	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000456317	T;T;T	0.73897	-0.79;-0.79;-0.79	5.93	5.93	0.95920	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.036072	0.85682	D	0.000000	T	0.77512	0.4141	L	0.49640	1.575	0.80722	D	1	P;B	0.47762	0.9;0.288	P;B	0.49799	0.622;0.196	T	0.79610	-0.1732	10	0.66056	D	0.02	-9.9902	16.3817	0.83467	1.0:0.0:0.0:0.0	.	184;247	B2RA57;Q9BTX7	.;TTPAL_HUMAN	V	247;247;213	ENSP00000262605:I247V;ENSP00000361995:I247V;ENSP00000412720:I213V	ENSP00000262605:I247V	I	+	1	0	TTPAL	42548749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	2.276000	0.75962	0.454000	0.30748	ATA	TTPAL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000124120		0.353	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2	-	0.00	27	0	A	NM_024331		43115335	+1	tier1	-	no_errors	ENST00000262605	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G
USP19	10869	genome.wustl.edu	37	3	49148789	49148789	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:49148789G>C	ENST00000398888.2	-	21	3236	c.2918C>G	c.(2917-2919)cCt>cGt	p.P973R	USP19_ENST00000398898.2_Missense_Mutation_p.P1013R|USP19_ENST00000434032.2_Missense_Mutation_p.P1074R|USP19_ENST00000453664.1_Missense_Mutation_p.P1064R|USP19_ENST00000398896.1_Missense_Mutation_p.P781R|USP19_ENST00000398892.3_Missense_Mutation_p.P1013R|USP19_ENST00000417901.1_Missense_Mutation_p.P1076R	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	973	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTACCCAGGCACAGCAGC	0.532																																																	0													98.0	103.0	101.0					3																	49148789		2053	4201	6254	SO:0001583	missense	0			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2918C>G	3.37:g.49148789G>C	ENSP00000381863:p.Pro973Arg		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67	p.P973R	ENST00000398888.2	37	c.2918	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897768	0.33535	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.19806	2.15;2.13;2.23;2.21;2.12;2.24;2.21	6.04	5.15	0.70609	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.536775	0.22298	N	0.061905	T	0.20577	0.0495	L	0.33485	1.01	0.33623	D	0.605095	P;P;P;P;B	0.49307	0.922;0.922;0.681;0.627;0.175	B;B;B;B;B	0.43575	0.424;0.424;0.403;0.238;0.055	T	0.24297	-1.0164	10	0.49607	T	0.09	-3.6039	14.9331	0.70933	0.0:0.0:0.8568:0.1432	.	1074;1064;973;1013;781	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	R	781;1013;1076;1064;1013;973;1074	ENSP00000381870:P781R;ENSP00000381872:P1013R;ENSP00000395260:P1076R;ENSP00000400090:P1064R;ENSP00000381867:P1013R;ENSP00000381863:P973R;ENSP00000401197:P1074R	ENSP00000381863:P973R	P	-	2	0	USP19	49123793	1.000000	0.71417	0.908000	0.35775	0.464000	0.32679	7.128000	0.77217	1.532000	0.49169	0.650000	0.86243	CCT	USP19	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000172046		0.532	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	-	0.00	30	0	G	NM_006677		49148789	-1	tier1	-	no_errors	ENST00000398888	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.998	C
USP8	9101	genome.wustl.edu	37	15	50784950	50784950	+	Missense_Mutation	SNP	C	C	T	rs78143971	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr15:50784950C>T	ENST00000396444.3	+	15	2625	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Missense_Mutation_p.R763W|USP8_ENST00000425032.3_Missense_Mutation_p.R657W|USP8_ENST00000307179.4_Missense_Mutation_p.R763W	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	763					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTCAGATTCGGAACCTCAA	0.403																																																	0													133.0	120.0	125.0					15																	50784950		2196	4294	6490	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2287C>T	15.37:g.50784950C>T	ENSP00000379721:p.Arg763Trp		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.R763W	ENST00000396444.3	37	c.2287	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628030	0.87560	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.21031	2.03;2.03;2.03;2.07	5.22	5.22	0.72569	.	0.556073	0.19308	N	0.117479	T	0.32255	0.0823	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.61477	0.889;0.889	T	0.02320	-1.1177	10	0.56958	D	0.05	-12.0933	15.5388	0.76024	0.1385:0.8615:0.0:0.0	.	657;763	B4DKA8;P40818	.;UBP8_HUMAN	W	763;763;763;657	ENSP00000379721:R763W;ENSP00000405537:R763W;ENSP00000302239:R763W;ENSP00000412682:R657W	ENSP00000302239:R763W	R	+	1	2	USP8	48572242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.593000	0.87608	0.650000	0.86243	CGG	USP8	-	NULL	ENSG00000138592		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	-	0.00	28	0	C	NM_005154		50784950	+1	tier1	rs78143971	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	T
VPS13C	54832	genome.wustl.edu	37	15	62232916	62232916	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr15:62232916C>A	ENST00000261517.5	-	47	5604	c.5531G>T	c.(5530-5532)cGa>cTa	p.R1844L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R1844L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1801L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1801L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R1844Q(2)		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						TGCTAAGTTTCGCTGTATGGA	0.338																																																	2	Substitution - Missense(2)	lung(2)											127.0	119.0	122.0					15																	62232916		2203	4300	6503	SO:0001583	missense	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.5531G>T	15.37:g.62232916C>A	ENSP00000261517:p.Arg1844Leu			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.R1844L	ENST00000261517.5	37	c.5531	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374012	0.82573	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16073	2.37;2.37;2.37	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.998	T	0.60944	-0.7162	10	0.72032	D	0.01	.	18.6183	0.91312	0.0:1.0:0.0:0.0	.	1801;1844;1801;1844	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	1801;1844;1844;1844	ENSP00000249837:R1801L;ENSP00000261517:R1844L;ENSP00000379233:R1844L	ENSP00000249837:R1801L	R	-	2	0	VPS13C	60020208	1.000000	0.71417	0.986000	0.45419	0.488000	0.33401	7.211000	0.77933	2.389000	0.81357	0.455000	0.32223	CGA	VPS13C	-	NULL	ENSG00000129003		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0.00	31	0	C	NM_017684		62232916	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.994	A
VPS29	51699	genome.wustl.edu	37	12	110930988	110930988	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:110930988T>C	ENST00000549578.1	-	3	309	c.244A>G	c.(244-246)Att>Gtt	p.I82V	VPS29_ENST00000546588.1_Missense_Mutation_p.I114V|VPS29_ENST00000360579.7_Missense_Mutation_p.I86V|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	82					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCAGACCAATTTTGAACTGT	0.383																																																	0													72.0	67.0	68.0					12																	110930988		1863	4104	5967	SO:0001583	missense	0			AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.244A>G	12.37:g.110930988T>C	ENSP00000447058:p.Ile82Val		Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	tigrfam_Phosphodiesterase_MJ0936	p.I82V	ENST00000549578.1	37	c.244	CCDS41832.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.78|17.78	3.473956|3.473956	0.63737|0.63737	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000546588|ENST00000360579	T;T|.	0.16073|.	2.37;2.37|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Calcineurin-like phosphoesterase superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.64630|0.64630	1.985|1.985	0.80722|0.80722	D|D	1|1	B;B|.	0.14438|.	0.007;0.01|.	B;B|.	0.20577|.	0.03;0.018|.	T|T	0.71279|0.71279	-0.4640|-0.4640	10|5	0.45353|.	T|.	0.12|.	-5.2352|-5.2352	16.5602|16.5602	0.84551|0.84551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	82;86|.	Q9UBQ0;Q9UBQ0-2|.	VPS29_HUMAN;.|.	V|S	82;86;114|98	ENSP00000447058:I82V;ENSP00000449044:I114V|.	ENSP00000380795:I86V|.	I|N	-|-	1|2	0|0	VPS29|VPS29	109415371|109415371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.979000|7.979000	0.88103|0.88103	2.313000|2.313000	0.78055|0.78055	0.454000|0.454000	0.30748|0.30748	ATT|AAT	VPS29	-	tigrfam_Phosphodiesterase_MJ0936	ENSG00000111237		0.383	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS29	HGNC	protein_coding	OTTHUMT00000404623.1	-	0.00	20	0	T			110930988	-1	tier1	-	no_errors	ENST00000549578	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	C
VWDE	221806	genome.wustl.edu	37	7	12414695	12414695	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:12414695C>T	ENST00000275358.3	-	8	1371	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	395						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						ATTGGTTGCACTACAATGTTT	0.403																																																	0													136.0	120.0	125.0					7																	12414695		692	1591	2283	SO:0001583	missense	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.1183G>A	7.37:g.12414695C>T	ENSP00000275358:p.Val395Met		B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.V395M	ENST00000275358.3	37	c.1183	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078624	0.76528	.	.	ENSG00000146530	ENST00000275358	D	0.83506	-1.73	4.46	4.46	0.54185	.	.	.	.	.	D	0.89808	0.6822	M	0.67953	2.075	0.29321	N	0.867353	D	0.71674	0.998	D	0.65573	0.936	D	0.85764	0.1351	9	0.72032	D	0.01	.	17.2952	0.87169	0.0:1.0:0.0:0.0	.	395	Q8N2E2	VWDE_HUMAN	M	395	ENSP00000275358:V395M	ENSP00000275358:V395M	V	-	1	0	VWDE	12381220	0.986000	0.35501	0.077000	0.20336	0.790000	0.44656	3.826000	0.55738	2.326000	0.78906	0.585000	0.79938	GTG	VWDE	-	NULL	ENSG00000146530		0.403	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	-	0.00	70	0	C	XM_371878		12414695	-1	tier1	-	no_errors	ENST00000452576	ensembl	human	known	74_37	missense	14.29	66	11	SNP	0.865	T
ZBED4	9889	genome.wustl.edu	37	22	50280738	50280739	+	Frame_Shift_Ins	INS	-	-	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr22:50280738_50280739insC	ENST00000216268.5	+	2	3905_3906	c.3428_3429insC	c.(3427-3432)agccttfs	p.L1144fs		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1144						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAACGGTAGCCTTGGCCAAT	0.49																																																	0																																										SO:0001589	frameshift_variant	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3430dupC	22.37:g.50280740_50280740dupC	ENSP00000216268:p.Leu1144fs		B2RZH1|Q1ECU0|Q9UGG8	Frame_Shift_Ins	INS	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.L1144fs	ENST00000216268.5	37	c.3428_3429	CCDS33677.1	22																																																																																			ZBED4	-	pfam_HATC_dom_C,superfamily_RNaseH-like_dom	ENSG00000100426		0.490	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0.00	57	0	-	NM_014838		50280739	+1	tier1		no_errors	ENST00000216268	ensembl	human	known	74_37	frame_shift_ins	20.00	44	11	INS	0.982:0.998	C
ZFP64	55734	genome.wustl.edu	37	20	50769335	50769335	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:50769335C>T	ENST00000216923.4	-	6	1745	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N	ZFP64_ENST00000371515.4_Missense_Mutation_p.D464N|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.D412N|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGCTGGGGTCGATCTGAAAC	0.602																																																	0													66.0	50.0	56.0					20																	50769335		2203	4300	6503	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1396G>A	20.37:g.50769335C>T	ENSP00000216923:p.Asp466Asn		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D466N	ENST00000216923.4	37	c.1396	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	3.183	-0.167387	0.06461	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07327	3.2;3.24;3.2	5.48	3.52	0.40303	.	0.437579	0.21259	N	0.077520	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	D;P;P	0.52996	0.957;0.555;0.555	B;B;B	0.35971	0.215;0.033;0.033	T	0.35076	-0.9803	10	0.62326	D	0.03	-10.4056	8.2072	0.31463	0.2801:0.6484:0.0:0.0715	.	412;464;466	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	N	466;412;464;308;619	ENSP00000216923:D466N;ENSP00000344615:D412N;ENSP00000360570:D464N	ENSP00000216923:D466N	D	-	1	0	ZFP64	50202742	0.097000	0.21791	0.001000	0.08648	0.015000	0.08874	1.039000	0.30266	0.658000	0.30925	-0.302000	0.09304	GAC	ZFP64	-	NULL	ENSG00000020256		0.602	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	-	0.00	21	0	C	NM_018197		50769335	-1	tier1	-	no_errors	ENST00000216923	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.006	T
ZFYVE27	118813	genome.wustl.edu	37	10	99509265	99509265	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:99509265C>T	ENST00000393677.4	+	6	790	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	ZFYVE27_ENST00000356257.4_Silent_p.L196L|ZFYVE27_ENST00000453958.2_Silent_p.L196L|ZFYVE27_ENST00000337540.7_Silent_p.L164L|ZFYVE27_ENST00000357540.4_Silent_p.L110L|ZFYVE27_ENST00000370610.3_Silent_p.L98L|ZFYVE27_ENST00000359980.3_Silent_p.L196L|ZFYVE27_ENST00000370613.3_Silent_p.L78L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	196					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		AGTCTGCATGCTGTATTTGCT	0.512																																																	0													143.0	120.0	128.0					10																	99509265		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.586C>T	10.37:g.99509265C>T			B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L196	ENST00000393677.4	37	c.586	CCDS31263.1	10																																																																																			ZFYVE27	-	NULL	ENSG00000155256		0.512	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	ZFYVE27	HGNC	protein_coding	OTTHUMT00000049745.2	-	0.00	72	0	C	NM_144588		99509265	+1	tier1	-	no_errors	ENST00000356257	ensembl	human	known	74_37	silent	15.09	45	8	SNP	1.000	T
ZNF780A	284323	genome.wustl.edu	37	19	40580618	40580618	+	Silent	SNP	T	T	C			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:40580618T>C	ENST00000595687.2	-	6	1940	c.1731A>G	c.(1729-1731)aaA>aaG	p.K577K	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Silent_p.K543K|ZNF780A_ENST00000455521.1_Silent_p.K578K|ZNF780A_ENST00000340963.5_Silent_p.K577K|ZNF780A_ENST00000594395.1_Silent_p.K578K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388																																																	0													140.0	140.0	140.0					19																	40580618		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1731A>G	19.37:g.40580618T>C			E9PB48|Q6ZN87	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.K578	ENST00000595687.2	37	c.1734	CCDS33026.2	19																																																																																			ZNF780A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	-	0.00	89	0	T	NM_001010880		40580618	-1	tier1	-	no_errors	ENST00000455521	ensembl	human	known	74_37	silent	7.14	78	6	SNP	0.991	C
ZNF582	147948	genome.wustl.edu	37	19	56895796	56895796	+	Silent	SNP	C	C	T			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:56895796C>T	ENST00000301310.4	-	5	1148	c.990G>A	c.(988-990)caG>caA	p.Q330Q	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Silent_p.Q330Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	330					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.Q330Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TATGAACAGTCTGATGTTGAA	0.383																																					Ovarian(183;1887 2032 4349 30507 51343)												1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											92.0	91.0	91.0					19																	56895796		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.990G>A	19.37:g.56895796C>T			B4DQZ9|B7Z9R3|Q6PJT6	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.Q330	ENST00000301310.4	37	c.990	CCDS33121.1	19																																																																																			ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.383	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2		0.00	41	0	C	NM_144690		56895796	-1			no_errors	ENST00000301310	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.930	T
