#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_ ensembl_gene_id	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_GMAF	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	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_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
CENPN	55839	genome.wustl.edu	37	16	81058170	81058171	+	Intron	INS	-	-	CAACTCAGC	rs112620608|rs71272432|rs567171711	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr16:81058170_81058171insCAACTCAGC	ENST00000305850.5	+	8	1423				RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000439957.3_Intron|RP11-303E16.3_ENST00000566390.1_RNA|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000393335.3_Intron|CENPN_ENST00000428963.2_Intron	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N						CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						AGTGTCCTGCTCAACTCAGCCA	0.406													ENSG00000260213		1499	0.299321	0.3222	0.3372	5008	,	,		16739	0.4335		0.2247	False		,,,				2504	0.18																0																																										SO:0001627	intron_variant	0				AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.634-149->CAACTCAGC	16.37:g.81058171_81058179dupCAACTCAGC			A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	R	INS	-	NULL	ENST00000305850.5	37	NULL	CCDS42200.1	16																																																																																				RP11-303E16.3	-	-		0.406	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ENSG00000260213	Clone_based_vega_gene	protein_coding	OTTHUMT00000269051.1									-	NM_018455		81058171	-1					tier1	no_errors	ENST00000561808	ensembl	human	known	74_37	rna			INS	0.047:0.001	CAACTCAGC		
VASP	7408	genome.wustl.edu	37	19	46027364	46027364	+	Missense_Mutation	SNP	G	G	A	rs371283026		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:46027364G>A	ENST00000245932.6	+	10	1276	c.920G>A	c.(919-921)cGg>cAg	p.R307Q		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	307	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GAATCTGTGCGGAGACCCTGG	0.562											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000125753																																					0									GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	85.0	85.0		920	3.6	1.0	19		85	0,8600		0,0,4300	no	missense	VASP	NM_003370.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	307/381	46027364	1,13005	2203	4300	6503	SO:0001583	missense	0			-		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.920G>A	19.37:g.46027364G>A	ENSP00000245932:p.Arg307Gln	936	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.R307Q	ENST00000245932.6	37	c.920	CCDS33051.1	19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150418	0.78001	2.27E-4	0.0	ENSG00000125753	ENST00000245932	T	0.72167	-0.63	4.66	3.59	0.41128	.	0.000000	0.64402	D	0.000001	T	0.65943	0.2740	M	0.78456	2.415	0.33283	D	0.562463	B	0.24533	0.105	B	0.12156	0.007	T	0.71237	-0.4652	10	0.44086	T	0.13	-6.9515	7.4302	0.27124	0.1928:0.0:0.8072:0.0	.	307	P50552	VASP_HUMAN	Q	307	ENSP00000245932:R307Q	ENSP00000245932:R307Q	R	+	2	0	VASP	50719204	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.858000	0.55979	2.419000	0.82065	0.655000	0.94253	CGG	-	VASP	-	pirsf_Vasodilator_phosphoprotein		0.562	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	HGNC	protein_coding	OTTHUMT00000459589.1	0	0		36	36		0.00		G			46027364	+1	19		30		tier1	no_errors	ENST00000245932	ensembl	human	known	74_37	missense	38.78		SNP	1.000	A	19	30
FARSB	10056	genome.wustl.edu	37	2	223497942	223497942	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr2:223497942G>T	ENST00000281828.6	-	7	954	c.691C>A	c.(691-693)Ctt>Att	p.L231I	FARSB_ENST00000536361.1_Missense_Mutation_p.L132I	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	231					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GGCATTGAAAGGACGACACCA	0.343													ENSG00000116120																																					0													123.0	120.0	121.0					2																	223497942		2203	4299	6502	SO:0001583	missense	0			-	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.691C>A	2.37:g.223497942G>T	ENSP00000281828:p.Leu231Ile		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	pfam_B3/B4_tR-bd,pfam_tR_synthase_B5-dom,superfamily_D-bd_dom_put,superfamily_Phe-tR_synthase_B3/B4,smart_B3/B4_tR-bd,smart_tR_synthase_B5-dom,tigrfam_Phe-tR-synth_IIc_bsu_arc	p.L231I	ENST00000281828.6	37	c.691	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047878	0.75846	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.30448	1.53;1.53	5.29	4.4	0.53042	B3/B4 tRNA-binding domain (2);Phenylalanyl-tRNA synthetase, B3/B4 (1);	0.060470	0.64402	D	0.000002	T	0.53642	0.1809	M	0.74389	2.26	0.58432	D	0.99999	P;P	0.47350	0.894;0.477	P;P	0.61070	0.883;0.815	T	0.58239	-0.7671	10	0.56958	D	0.05	-11.1046	15.7154	0.77663	0.0:0.0:0.8621:0.1379	.	231;231	A8K666;Q9NSD9	.;SYFB_HUMAN	I	231;132	ENSP00000281828:L231I;ENSP00000442950:L132I	ENSP00000281828:L231I	L	-	1	0	FARSB	223206186	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	7.387000	0.79785	1.364000	0.46038	0.478000	0.44815	CTT	-	FARSB	-	pfam_B3/B4_tR-bd,superfamily_Phe-tR_synthase_B3/B4,smart_B3/B4_tR-bd,tigrfam_Phe-tR-synth_IIc_bsu_arc		0.343	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	0	0		31	31		0.00		G	NM_005687		223497942	-1	4		36		tier1	no_errors	ENST00000281828	ensembl	human	known	74_37	missense	10.00		SNP	1.000	T	4	36
AC093627.10	0	genome.wustl.edu	37	7	149458	149459	+	lincRNA	INS	-	-	CTCCT	rs5881879|rs111966368|rs66504224|rs200280223		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr7:149458_149459insCTCCT	ENST00000484550.1	+	0	0				AC093627.9_ENST00000462565.1_lincRNA																							ggagtcgctcgctcctctctgc	0.688													ENSG00000242474																																					0																																												0																																7.37:g.149459_149463dupCTCCT				R	INS	-	NULL	ENST00000484550.1	37	NULL		7																																																																																				AC093627.9	-	-		0.688	AC093627.10-001	KNOWN	basic	lincRNA	ENSG00000242474	Clone_based_vega_gene	lincRNA	OTTHUMT00000322469.1									-			149459	-1					tier1	no_errors	ENST00000497320	ensembl	human	known	74_37	rna			INS	0.002:0.001	CTCCT		
TINAG	27283	genome.wustl.edu	37	6	54245359	54245359	+	Missense_Mutation	SNP	A	A	G			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:54245359A>G	ENST00000259782.4	+	10	1382	c.1286A>G	c.(1285-1287)gAa>gGa	p.E429G		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	429					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGGCAGAAAGAAAAATTTTGG	0.358													ENSG00000137251																																					0													115.0	127.0	123.0					6																	54245359		2203	4300	6503	SO:0001583	missense	0			-	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1286A>G	6.37:g.54245359A>G	ENSP00000259782:p.Glu429Gly		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.E429G	ENST00000259782.4	37	c.1286	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788330	0.49997	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84070	-1.8	4.94	4.94	0.65067	Peptidase C1A, papain C-terminal (2);	0.086238	0.49916	D	0.000126	T	0.79197	0.4405	L	0.33668	1.02	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.77365	-0.2615	10	0.22706	T	0.39	.	11.2882	0.49234	1.0:0.0:0.0:0.0	.	429	Q9UJW2	TINAG_HUMAN	G	288;429;108	ENSP00000259782:E429G	ENSP00000259782:E429G	E	+	2	0	TINAG	54353318	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.658000	0.61497	1.973000	0.57446	0.528000	0.53228	GAA	-	TIG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.358	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIG	HGNC	protein_coding	OTTHUMT00000040984.1	0	0		79	79		0.00		A	NM_014464		54245359	+1	19		33		tier1	no_errors	ENST00000259782	ensembl	human	known	74_37	missense	36.54		SNP	1.000	G	19	33
TMTC1	83857	genome.wustl.edu	37	12	29936515	29936515	+	Missense_Mutation	SNP	A	A	G			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr12:29936515A>G	ENST00000539277.1	-	1	228	c.170T>C	c.(169-171)aTc>aCc	p.I57T	TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000552618.1_Missense_Mutation_p.I57T|TMTC1_ENST00000381224.2_Intron|TMTC1_ENST00000551659.1_Missense_Mutation_p.I57T	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	57						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTGTTCACGATCGCCCACAC	0.716													ENSG00000133687																																					0																																										SO:0001583	missense	0			-		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.170T>C	12.37:g.29936515A>G	ENSP00000442046:p.Ile57Thr		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I57T	ENST00000539277.1	37	c.170	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049086	0.75846	.	.	ENSG00000133687	ENST00000551659;ENST00000552618;ENST00000539277	D;D;D	0.93712	-3.27;-3.27;-3.27	3.12	3.12	0.35913	.	.	.	.	.	D	0.96169	0.8751	M	0.90650	3.135	0.80722	D	1	.	.	.	.	.	.	D	0.95955	0.8957	6	.	.	.	.	10.3706	0.44051	1.0:0.0:0.0:0.0	.	.	.	.	T	57	ENSP00000448112:I57T;ENSP00000449043:I57T;ENSP00000442046:I57T	.	I	-	2	0	TMTC1	29827782	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.127000	0.71642	1.306000	0.44926	0.392000	0.25879	ATC	-	TMTC1	-	NULL		0.716	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1	0	0		42	42		0.00		A	NM_031920		29936515	-1	11		59		tier1	no_errors	ENST00000539277	ensembl	human	putative	74_37	missense	15.71		SNP	1.000	G	11	59
ULK4	54986	genome.wustl.edu	37	3	41938472	41938472	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr3:41938472delC	ENST00000301831.4	-	15	1834	c.1372delG	c.(1372-1374)gatfs	p.D458fs	U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Frame_Shift_Del_p.D458fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	458					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAATCTTGATCTTTCAGAAAT	0.388													ENSG00000168038																																					0													68.0	67.0	67.0					3																	41938472		1871	4105	5976	SO:0001589	frameshift_variant	0				AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1372delG	3.37:g.41938472delC	ENSP00000301831:p.Asp458fs		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D458fs	ENST00000301831.4	37	c.1372	CCDS43071.1	3																																																																																				ULK4	-	NULL		0.388	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	0	0		10	10		0.00		C	XM_929989		41938472	-1	8		11		tier1	no_errors	ENST00000301831	ensembl	human	known	74_37	frame_shift_del	42.11		DEL	0.998	-	8	11
RHBG	57127	genome.wustl.edu	37	1	156347271	156347271	+	Missense_Mutation	SNP	G	G	A	rs369197444	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:156347271G>A	ENST00000368249.1	+	2	405	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	RHBG_ENST00000400992.2_Missense_Mutation_p.V54M|RHBG_ENST00000368246.2_Missense_Mutation_p.V123M|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000255013.3_Missense_Mutation_p.V54M|RHBG_ENST00000451864.2_Missense_Mutation_p.V54M	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	123					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCATGTTGGCGTGGAGAGGTG	0.652													ENSG00000132677	G|||	4	0.000798722	0.0008	0.0	5008	,	,		18725	0.003		0.0	False		,,,				2504	0.0																0								G	MET/VAL	0,4292		0,0,2146	43.0	48.0	46.0		367	-4.1	0.1	1		46	2,8502		0,2,4250	no	missense	RHBG	NM_020407.3	21	0,2,6396	AA,AG,GG		0.0235,0.0,0.0156	benign	123/459	156347271	2,12794	2146	4252	6398	SO:0001583	missense	0			-	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.367G>A	1.37:g.156347271G>A	ENSP00000357232:p.Val123Met		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.V123M	ENST00000368249.1	37	c.367		1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980493	0.34942	0.0	2.35E-4	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.17	-4.06	0.03986	Ammonium transporter AmtB-like (3);	0.532223	0.20817	N	0.085122	T	0.04543	0.0124	N	0.20574	0.59	0.32669	N	0.517066	B;P;P	0.42161	0.039;0.719;0.772	B;B;B	0.30943	0.01;0.104;0.122	T	0.13124	-1.0521	10	0.48119	T	0.1	-20.4477	13.3064	0.60355	0.665:0.0:0.335:0.0	.	123;54;160	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	M	123;123;54;54;54	ENSP00000357232:V123M;ENSP00000357229:V123M;ENSP00000383777:V54M;ENSP00000255013:V54M;ENSP00000389836:V54M	ENSP00000255013:V54M	V	+	1	0	RHBG	154613895	0.000000	0.05858	0.063000	0.19743	0.346000	0.29079	-0.215000	0.09279	-0.733000	0.04850	-1.036000	0.02392	GTG	-	RHBG	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom		0.652	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	0	0		91	91		0.00		G	NM_001256395		156347271	+1	36		61		tier1	no_errors	ENST00000368246	ensembl	human	known	74_37	missense	37.11		SNP	0.298	A	36	61
NIPAL3	57185	genome.wustl.edu	37	1	24776053	24776053	+	Silent	SNP	C	C	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:24776053C>T	ENST00000374399.4	+	6	845	c.477C>T	c.(475-477)caC>caT	p.H159H	NIPAL3_ENST00000003912.3_Silent_p.H77H|NIPAL3_ENST00000428131.1_Silent_p.H159H|NIPAL3_ENST00000358028.4_Silent_p.H159H|NIPAL3_ENST00000339255.2_Silent_p.H159H	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	159						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCAACAGTCACGAGAAGATGA	0.567													ENSG00000001461																																					0													103.0	85.0	91.0					1																	24776053		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.477C>T	1.37:g.24776053C>T			A2A298|Q6MZT9|Q9BVE6	Silent	SNP	pfam_Mg_trans_NIPA	p.H159	ENST00000374399.4	37	c.477	CCDS30631.1	1																																																																																			-	NIPAL3	-	pfam_Mg_trans_NIPA		0.567	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	HGNC	protein_coding	OTTHUMT00000276996.1	0	0		72	72		0.00		C	NM_020448		24776053	+1	36		8		tier1	no_errors	ENST00000374399	ensembl	human	known	74_37	silent	81.82		SNP	0.549	T	36	8
DENND2C	163259	genome.wustl.edu	37	1	115127989	115127989	+	3'UTR	DEL	A	A	-			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:115127989delA	ENST00000393274.1	-	0	3644				DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_3'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTGCTATAAAAAAAAAAT	0.408													ENSG00000175984																																					0																																										SO:0001624	3_prime_UTR_variant	0					CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.*232T>-	1.37:g.115127989delA			B1AL26|Q5TCX6|Q6P3R3	R	DEL	-	NULL	ENST00000393274.1	37	NULL	CCDS58018.1	1																																																																																				DENND2C	-	-		0.408	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	0	0		17	17		0.00		A	NM_198459		115127989	-1	4		17		tier1	no_errors	ENST00000495031	ensembl	human	known	74_37	rna	19.05		DEL	0.000	-	4	17
CENPF	1063	genome.wustl.edu	37	1	214794049	214794049	+	Missense_Mutation	SNP	C	C	T	rs148125567		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:214794049C>T	ENST00000366955.3	+	6	793	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.R209W(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CGACATTGCCCGGCATCAGGC	0.433													ENSG00000117724	C|||	1	0.000199681	0.0	0.0014	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.0				Colon(80;575 1284 11000 14801 43496)												1	Substitution - Missense(1)	NS(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	129.0	124.0		625	5.1	0.9	1	dbSNP_134	124	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CENPF	NM_016343.3	101	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	209/3115	214794049	5,13001	2203	4300	6503	SO:0001583	missense	0			-	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.625C>T	1.37:g.214794049C>T	ENSP00000355922:p.Arg209Trp		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.R209W	ENST00000366955.3	37	c.625	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284636	0.80803	2.27E-4	4.65E-4	ENSG00000117724	ENST00000366955	T	0.29397	1.57	6.0	5.07	0.68467	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.32343	N	0.006234	T	0.59169	0.2174	.	.	.	0.45172	D	0.99818	D	0.89917	1.0	D	0.97110	1.0	T	0.66164	-0.5992	9	0.87932	D	0	.	16.2073	0.82138	0.1379:0.8621:0.0:0.0	.	209	P49454	CENPF_HUMAN	W	209	ENSP00000355922:R209W	ENSP00000355922:R209W	R	+	1	2	CENPF	212860672	0.960000	0.32886	0.916000	0.36221	0.977000	0.68977	1.993000	0.40747	1.482000	0.48325	0.603000	0.83216	CGG	rs148125567	CENPF	-	pfam_Centromere_CenpF_N		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	0	0		50	50		0.00		C	NM_016343		214794049	+1	33		34		tier1	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	49.25		SNP	0.980	T	33	34
ITPR2	3709	genome.wustl.edu	37	12	26839531	26839531	+	Missense_Mutation	SNP	C	C	T	rs377464722		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr12:26839531C>T	ENST00000381340.3	-	11	1447	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	344	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCCTGCCTGGCGTTTTTTCTT	0.418													ENSG00000123104																																					0								C	HIS/ARG	1,3743		0,1,1871	187.0	179.0	181.0		1031	4.9	1.0	12		181	0,8218		0,0,4109	no	missense	ITPR2	NM_002223.2	29	0,1,5980	TT,TC,CC		0.0,0.0267,0.0084	benign	344/2702	26839531	1,11961	1872	4109	5981	SO:0001583	missense	0			-	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1031G>A	12.37:g.26839531C>T	ENSP00000370744:p.Arg344His		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R344H	ENST00000381340.3	37	c.1031	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933247	0.52866	2.67E-4	0.0	ENSG00000123104	ENST00000381340	D	0.87179	-2.22	4.92	4.92	0.64577	MIR motif (2);MIR (2);	0.276434	0.37669	N	0.001992	D	0.85336	0.5673	L	0.49350	1.555	0.80722	D	1	B	0.13145	0.007	B	0.19391	0.025	T	0.81904	-0.0719	10	0.51188	T	0.08	.	18.3276	0.90259	0.0:1.0:0.0:0.0	.	344	Q14571	ITPR2_HUMAN	H	344	ENSP00000370744:R344H	ENSP00000370744:R344H	R	-	2	0	ITPR2	26730798	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.499000	0.66937	2.544000	0.85801	0.650000	0.86243	CGC	-	ITPR2	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif		0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	0	0		37	37		0.00		C	NM_002223		26839531	-1	22		27		tier1	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	44.90		SNP	1.000	T	22	27
FAM47E	100129583	genome.wustl.edu	37	4	77184926	77184926	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr4:77184926G>T	ENST00000424749.2	+	3	496	c.490G>T	c.(490-492)Gac>Tac	p.D164Y	FAM47E_ENST00000515604.1_Missense_Mutation_p.D164Y|FAM47E_ENST00000339906.6_Missense_Mutation_p.D51Y|FAM47E-STBD1_ENST00000539752.1_5'UTR|FAM47E_ENST00000510197.1_Missense_Mutation_p.D51Y	NM_001136570.2	NP_001130042.1	Q6ZV65	FA47E_HUMAN	family with sequence similarity 47, member E	164																	TTATTGTCAGGACACCAGGAA	0.438													ENSG00000189157																																					0													131.0	104.0	112.0					4																	77184926		692	1591	2283	SO:0001583	missense	0			-	AC034139, AK124936, CR591456, CR627383	CCDS47081.1, CCDS58907.1	4q21.1	2013-04-23			ENSG00000189157	ENSG00000189157			34343	protein-coding gene	gene with protein product	"""similar to genethonin 1"""						Standard	NM_001136570		Approved	FLJ42946, LOC100129583	uc003hjx.3	Q6ZV65	OTTHUMG00000185390	ENST00000424749.2:c.490G>T	4.37:g.77184926G>T	ENSP00000409423:p.Asp164Tyr		D6R8Y4	Missense_Mutation	SNP	superfamily_eIF4G1_eIF4E-bd	p.D164Y	ENST00000424749.2	37	c.490	CCDS47081.1	4	.	.	.	.	.	.	.	.	.	.	G	8.126	0.781974	0.16189	.	.	ENSG00000189157	ENST00000510197;ENST00000512895;ENST00000339906;ENST00000515604;ENST00000424749	T;T;T;T;T	0.52983	0.76;0.64;0.76;2.54;2.54	4.75	4.75	0.60458	.	0.336884	0.21624	N	0.071589	T	0.55114	0.1900	L	0.34521	1.04	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.63877	0.885;0.919;0.911	T	0.56105	-0.8034	10	0.59425	D	0.04	-10.1426	13.9956	0.64397	0.0:0.0:1.0:0.0	.	164;164;51	Q6ZV65-1;Q6ZV65;Q6ZV65-2	.;FA47E_HUMAN;.	Y	51;74;51;164;164	ENSP00000422262:D51Y;ENSP00000422559:D74Y;ENSP00000340401:D51Y;ENSP00000422067:D164Y;ENSP00000409423:D164Y	ENSP00000340401:D51Y	D	+	1	0	FAM47E	77403950	0.836000	0.29430	0.970000	0.41538	0.010000	0.07245	1.257000	0.32932	2.575000	0.86900	0.655000	0.94253	GAC	-	FAM47E	-	NULL		0.438	FAM47E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM47E	HGNC	protein_coding	OTTHUMT00000362528.2	0	0		38	38		0.00		G	NM_001136570		77184926	+1	4		32		tier1	no_errors	ENST00000424749	ensembl	human	known	74_37	missense	11.11		SNP	0.980	T	4	32
VAV3	10451	genome.wustl.edu	37	1	108293737	108293737	+	Splice_Site	SNP	A	A	G			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:108293737A>G	ENST00000370056.4	-	13	1534		c.e13+1		VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTCTTTTCTTACCTTTCTTGT	0.338													ENSG00000134215																																					0													98.0	92.0	94.0					1																	108293737		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1259+1T>C	1.37:g.108293737A>G			B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	-	e13+2	ENST00000370056.4	37	c.1259+2	CCDS785.1	1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108882	0.56398	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000490388;ENST00000371846	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6052	0.76664	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108095260	1.000000	0.71417	0.998000	0.56505	0.487000	0.33371	8.847000	0.92166	2.095000	0.63458	0.460000	0.39030	.	-	VAV3	-	-		0.338	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	0	0		39	39		0.00		A	NM_006113	Intron	108293737	-1	23		18		tier1	no_errors	ENST00000370056	ensembl	human	known	74_37	splice_site	56.10		SNP	1.000	G	23	18
FLJ36000	284124	genome.wustl.edu	37	17	21911266	21911267	+	lincRNA	INS	-	-	TG	rs66463211|rs377372339|rs142914886|rs572886648	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr17:21911266_21911267insTG	ENST00000581223.2	+	0	1991_1992					NR_027084.1																						gtttttgtttctgtgtgtgtgt	0.505													ENSG00000266795																																					0																																												0																																17.37:g.21911275_21911276dupTG				R	INS	-	NULL	ENST00000581223.2	37	NULL		17																																																																																				RP11-744K17.9	-	-		0.505	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1	0	0		10	10		0.00		-			21911267	+1	9		10		tier1	no_errors	ENST00000581223	ensembl	human	known	74_37	rna	47.37		INS	0.004:0.024	TG	9	10
HLA-DRB6	3128	genome.wustl.edu	37	6	32520830	32520844	+	RNA	DEL	AGGAGTCCAGCGCAG	AGGAGTCCAGCGCAG	-	rs373455550|rs66792445|rs71536524|rs200391463|rs144751271|rs1071763|rs371000848	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	AGGAGTCCAGCGCAG	AGGAGTCCAGCGCAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:32520830_32520844delAGGAGTCCAGCGCAG	ENST00000411500.1	-	0	880_894				RNU1-61P_ENST00000516107.1_RNA	NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ACTTCAGCTCAGGAGTCCAGCGCAGGAGTCCTGCA	0.474													ENSG00000229391																																					0																																												0				L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32520830_32520844delAGGAGTCCAGCGCAG				R	DEL	-	NULL	ENST00000411500.1	37	NULL		6																																																																																				HLA-DRB6	-	-		0.474	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1									AGGAGTCCAGCGCAG	NR_001298		32520844	-1					tier1	no_errors	ENST00000411500	ensembl	human	known	74_37	rna			DEL	0.975:0.991:0.996:0.997:0.995:0.988:0.985:0.943:0.810:0.673:0.530:0.488:0.478:0.468:0.458	-		
PTPRS	5802	genome.wustl.edu	37	19	5219990	5219990	+	Missense_Mutation	SNP	T	T	C			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:5219990T>C	ENST00000587303.1	-	21	3824	c.3725A>G	c.(3724-3726)tAt>tGt	p.Y1242C	PTPRS_ENST00000262963.6_Missense_Mutation_p.Y1238C|PTPRS_ENST00000588012.1_Missense_Mutation_p.Y1220C|PTPRS_ENST00000592099.1_Missense_Mutation_p.Y811C|PTPRS_ENST00000372412.4_Missense_Mutation_p.Y1243C|PTPRS_ENST00000348075.2_Missense_Mutation_p.Y1220C|PTPRS_ENST00000353284.2_Missense_Mutation_p.Y811C|PTPRS_ENST00000357368.4_Missense_Mutation_p.Y1242C|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1242					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GAAGAGGACATAGCGGTGGCC	0.602													ENSG00000105426																																					0													70.0	82.0	78.0					19																	5219990		2203	4299	6502	SO:0001583	missense	0			-	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3725A>G	19.37:g.5219990T>C	ENSP00000467537:p.Tyr1242Cys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.Y1243C	ENST00000587303.1	37	c.3728	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961230	0.74016	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.69926	-0.38;-0.34;-0.35;-0.44;-0.26	4.06	4.06	0.47325	.	0.000000	0.64402	U	0.000012	D	0.83294	0.5223	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.996;1.0;0.951;0.999;0.999	D	0.86776	0.1976	10	0.87932	D	0	.	13.1939	0.59728	0.0:0.0:0.0:1.0	.	824;811;815;1220;1242;837	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	C	837;1243;1242;1242;1233;1238;1220;824;815;811	ENSP00000361489:Y1243C;ENSP00000349932:Y1242C;ENSP00000262963:Y1238C;ENSP00000269907:Y1220C;ENSP00000327313:Y811C	ENSP00000262963:Y1238C	Y	-	2	0	PTPRS	5170990	1.000000	0.71417	0.464000	0.27143	0.889000	0.51656	7.708000	0.84633	1.718000	0.51419	0.528000	0.53228	TAT	-	PTPRS	-	NULL		0.602	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	0	0		110	110		0.00		T			5219990	-1	14		89		tier1	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	13.59		SNP	0.998	C	14	89
ADAMTS17	170691	genome.wustl.edu	37	15	100739618	100739618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr15:100739618G>T	ENST00000268070.4	-	8	1191	c.1086C>A	c.(1084-1086)taC>taA	p.Y362*	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	362	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACCTCCTAAGTAAGCAATTC	0.527													ENSG00000140470																																					0													253.0	206.0	222.0					15																	100739618		2203	4300	6503	SO:0001587	stop_gained	0			-	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1086C>A	15.37:g.100739618G>T	ENSP00000268070:p.Tyr362*		Q2I7G4|Q6ZN75	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y362*	ENST00000268070.4	37	c.1086	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	38	7.001835	0.97994	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	.	.	.	5.55	3.66	0.41972	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6489	0.51277	0.1984:0.0:0.8016:0.0	.	.	.	.	X	362;119	.	ENSP00000268070:Y362X	Y	-	3	2	ADAMTS17	98557141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.086000	0.41643	1.332000	0.45431	0.655000	0.94253	TAC	-	ADAMTS17	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	0	0		52	52		0.00		G	NM_139057		100739618	-1	11		62		tier1	no_errors	ENST00000268070	ensembl	human	known	74_37	nonsense	15.07		SNP	1.000	T	11	62
OPN5	221391	genome.wustl.edu	37	6	47762984	47762984	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:47762984G>T	ENST00000371211.2	+	4	469	c.441G>T	c.(439-441)aaG>aaT	p.K147N	OPN5_ENST00000393699.2_Missense_Mutation_p.K147N|OPN5_ENST00000489301.2_Missense_Mutation_p.K147N|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	147					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.K147N(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGAAAAGAAAGCACGCCTACA	0.547													ENSG00000124818																									Melanoma(28;740 973 10870 42660 45347)												1	Substitution - Missense(1)	lung(1)											40.0	36.0	38.0					6																	47762984		2203	4300	6503	SO:0001583	missense	0			-	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.441G>T	6.37:g.47762984G>T	ENSP00000360255:p.Lys147Asn		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.K147N	ENST00000371211.2	37	c.441	CCDS4923.1	6	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659864	0.29515	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.40225	1.04;1.04;1.04	5.78	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.292305	0.44097	D	0.000491	T	0.07638	0.0192	N	0.12443	0.215	0.35010	D	0.7568	B	0.10296	0.003	B	0.11329	0.006	T	0.17349	-1.0372	10	0.02654	T	1	.	8.3826	0.32481	0.0:0.3808:0.3359:0.2833	.	147	Q6U736	OPN5_HUMAN	N	147	ENSP00000426991:K147N;ENSP00000360255:K147N;ENSP00000377302:K147N	ENSP00000360255:K147N	K	+	3	2	OPN5	47870943	0.880000	0.30214	1.000000	0.80357	0.998000	0.95712	-0.036000	0.12185	2.735000	0.93741	0.557000	0.71058	AAG	-	OPN5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	0	0		51	51		0.00		G	NM_181744		47762984	+1	25		24		tier1	no_errors	ENST00000371211	ensembl	human	known	74_37	missense	50.00		SNP	0.999	T	25	24
C19orf66	55337	genome.wustl.edu	37	19	10200415	10200415	+	Intron	SNP	G	G	C			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:10200415G>C	ENST00000253110.11	+	4	532				C19orf66_ENST00000397881.3_Intron|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000591813.1_Intron	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66											large_intestine(3)|skin(1)	4						TTGGGAGGGGGACATCTGCAG	0.572													ENSG00000267387																																					0													33.0	37.0	36.0					19																	10200415		2062	4199	6261	SO:0001627	intron_variant	0			-		CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.234+44G>C	19.37:g.10200415G>C			A8MQT9|Q4G188|Q8IYH6|Q8N8V1	R	SNP	-	NULL	ENST00000253110.11	37	NULL	CCDS45957.1	19																																																																																			-	CTD-2240E14.4	-	-		0.572	C19orf66-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267387	Clone_based_vega_gene	protein_coding	OTTHUMT00000451129.1	0	0		36	36		0.00		G	NM_018381		10200415	-1	23		29		tier1	no_errors	ENST00000589622	ensembl	human	known	74_37	rna	44.23		SNP	0.030	C	23	29
KMT2A	4297	genome.wustl.edu	37	11	118305414	118305414	+	5'Flank	SNP	A	A	G			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:118305414A>G	ENST00000389506.5	+	0	0				KMT2A_ENST00000354520.4_5'Flank|KMT2A_ENST00000534358.1_5'Flank|RP11-770J1.4_ENST00000532619.1_Missense_Mutation_p.L136P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTTAGCATCTAGTAAACCACG	0.537													ENSG00000255384																																					0																																										SO:0001631	upstream_gene_variant	0			-	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337		11.37:g.118305414A>G	Exception_encountered		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	NULL	p.L136P	ENST00000389506.5	37	c.407	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	4.694	0.129012	0.08981	.	.	ENSG00000255384	ENST00000532619	.	.	.	5.15	2.64	0.31445	.	.	.	.	.	T	0.66674	0.2813	.	.	.	.	.	.	D	0.76494	0.999	D	0.76071	0.987	T	0.71961	-0.4434	6	0.87932	D	0	.	5.6727	0.17731	0.654:0.1766:0.0:0.1694	.	136	Q9BRP9	YK016_HUMAN	P	136	.	ENSP00000435815:L136P	L	-	2	0	RP11-770J1.4	117810624	1.000000	0.71417	0.997000	0.53966	0.361000	0.29550	1.543000	0.36147	0.938000	0.37419	0.533000	0.62120	CTA	-	RP11-770J1.4	-	NULL		0.537	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000255384	Clone_based_vega_gene	protein_coding	OTTHUMT00000399085.2	0	0		54	54		0.00		A	NM_005933		118305414	-1	6		45		tier1	no_errors	ENST00000532619	ensembl	human	putative	74_37	missense	11.76		SNP	0.958	G	6	45
CYP2C9	1559	genome.wustl.edu	37	10	96740982	96740982	+	Missense_Mutation	SNP	G	G	A	rs367826293		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr10:96740982G>A	ENST00000260682.6	+	7	1016	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	335			R -> W (in allele CYP2C9*11; dbSNP:rs28371685). {ECO:0000269|PubMed:11926893, ECO:0000269|PubMed:15469410}.		arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGCAGAAACCGGAGCCCCTGC	0.493													ENSG00000138109																									Ovarian(54;1266 1406 16072 35076)												0								G	GLN/ARG	0,4406		0,0,2203	168.0	148.0	155.0		1004	2.9	0.9	10		155	1,8599		0,1,4299	no	missense	CYP2C9	NM_000771.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	335/491	96740982	1,13005	2203	4300	6503	SO:0001583	missense	0			-	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1004G>A	10.37:g.96740982G>A	ENSP00000260682:p.Arg335Gln		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R335Q	ENST00000260682.6	37	c.1004	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	12.91	2.080551	0.36662	0.0	1.16E-4	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69306	-0.39	3.78	2.87	0.33458	.	0.293574	0.27035	U	0.021241	T	0.62060	0.2397	L	0.52364	1.645	0.09310	N	0.999998	D;D	0.60575	0.988;0.988	P;P	0.46850	0.529;0.529	T	0.56396	-0.7986	10	0.56958	D	0.05	.	9.3127	0.37915	0.1099:0.0:0.8901:0.0	.	335;335	Q5VX92;P11712	.;CP2C9_HUMAN	Q	335	ENSP00000260682:R335Q	ENSP00000260682:R335Q	R	+	2	0	CYP2C9	96730972	0.845000	0.29573	0.868000	0.34077	0.185000	0.23345	3.114000	0.50383	0.948000	0.37687	0.305000	0.20034	CGG	-	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.493	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	0	0		68	68		0.00		G	NM_000771		96740982	+1	21		37		tier1	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	36.21		SNP	0.190	A	21	37
VPS41	27072	genome.wustl.edu	37	7	38813817	38813817	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr7:38813817G>T	ENST00000310301.4	-	12	964	c.910C>A	c.(910-912)Ctg>Atg	p.L304M	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.L279M	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	304					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATGATGTCCAGTCTAGGCCTG	0.368													ENSG00000006715																																					0													153.0	157.0	156.0					7																	38813817		2203	4300	6503	SO:0001583	missense	0			-	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.910C>A	7.37:g.38813817G>T	ENSP00000309457:p.Leu304Met		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.L304M	ENST00000310301.4	37	c.910	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898354	0.72639	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.54479	0.57;0.57	5.93	-3.95	0.04118	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.74389	2.26	0.49687	D	0.999819	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71414	0.973;0.973;0.973	T	0.73369	-0.4004	10	0.52906	T	0.07	-12.5901	18.9403	0.92602	0.1837:0.0:0.8163:0.0	.	304;279;304	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	M	304;279	ENSP00000309457:L304M;ENSP00000379297:L279M	ENSP00000309457:L304M	L	-	1	2	VPS41	38780342	1.000000	0.71417	0.340000	0.25575	0.992000	0.81027	1.061000	0.30542	-0.557000	0.06126	0.561000	0.74099	CTG	-	VPS41	-	pirsf_VPS41		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	0	0		50	50		0.00		G			38813817	-1	4		40		tier1	no_errors	ENST00000310301	ensembl	human	known	74_37	missense	9.09		SNP	0.990	T	4	40
ABCC2	1244	genome.wustl.edu	37	10	101591500	101591500	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr10:101591500G>T	ENST00000370449.4	+	22	3129	c.3016G>T	c.(3016-3018)Gac>Tac	p.D1006Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1006	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTGGACCAGTGACTCTAAAAT	0.453													ENSG00000023839																																					0													136.0	129.0	132.0					10																	101591500		2203	4300	6503	SO:0001583	missense	0			-	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3016G>T	10.37:g.101591500G>T	ENSP00000359478:p.Asp1006Tyr		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.D1006Y	ENST00000370449.4	37	c.3016	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769088	0.90020	.	.	ENSG00000023839	ENST00000370449	D	0.89343	-2.5	5.64	5.64	0.86602	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96145	0.9103	10	0.87932	D	0	-21.1879	19.6781	0.95945	0.0:0.0:1.0:0.0	.	1006	Q92887	MRP2_HUMAN	Y	1006	ENSP00000359478:D1006Y	ENSP00000359478:D1006Y	D	+	1	0	ABCC2	101581490	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	9.866000	0.99616	2.661000	0.90470	0.591000	0.81541	GAC	-	ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc		0.453	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	0	0		68	68		0.00		G	NM_000392		101591500	+1	4		44		tier1	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	8.33		SNP	1.000	T	4	44
SNED1	25992	genome.wustl.edu	37	2	242007218	242007218	+	Missense_Mutation	SNP	C	C	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr2:242007218C>T	ENST00000310397.8	+	22	3050	c.3050C>T	c.(3049-3051)aCg>aTg	p.T1017M	SNED1_ENST00000401884.1_Missense_Mutation_p.T1017M|SNED1_ENST00000342631.6_Missense_Mutation_p.T1017M|SNED1_ENST00000405547.3_Missense_Mutation_p.T1017M	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1017	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ACCAATGTGACGGCTAGCACC	0.662													ENSG00000162804																																					0													41.0	47.0	45.0					2																	242007218		2089	4196	6285	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.3050C>T	2.37:g.242007218C>T	ENSP00000308893:p.Thr1017Met		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.T1017M	ENST00000310397.8	37	c.3050	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236289	0.58886	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.18	5.18	0.71444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.262956	0.26616	N	0.023394	T	0.64875	0.2638	L	0.29908	0.895	0.29995	N	0.816536	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.68192	0.941;0.928;0.956	T	0.62581	-0.6824	10	0.36615	T	0.2	.	16.8748	0.86048	0.0:1.0:0.0:0.0	.	1017;1017;1017	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	M	1017	ENSP00000384871:T1017M;ENSP00000386007:T1017M;ENSP00000308893:T1017M;ENSP00000342992:T1017M	ENSP00000308893:T1017M	T	+	2	0	SNED1	241655891	1.000000	0.71417	0.792000	0.32020	0.156000	0.22039	5.626000	0.67777	2.426000	0.82243	0.491000	0.48974	ACG	-	SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.662	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	0	0		40	40		0.00		C	XM_059482		242007218	+1	20		28		tier1	no_errors	ENST00000310397	ensembl	human	known	74_37	missense	41.67		SNP	0.986	T	20	28
MBNL1	4154	genome.wustl.edu	37	3	152017897	152017898	+	5'UTR	INS	-	-	T	rs368507124		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr3:152017897_152017898insT	ENST00000463374.1	+	0	426_427				MBNL1_ENST00000324210.5_5'UTR|MBNL1_ENST00000485509.1_5'Flank|MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000357472.3_5'UTR|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000485910.1_5'UTR|MBNL1_ENST00000282488.7_5'UTR|MBNL1_ENST00000355460.2_5'UTR|MBNL1_ENST00000492948.1_5'Flank|MBNL1_ENST00000282486.6_5'UTR|MBNL1_ENST00000324196.5_5'UTR|MBNL1_ENST00000545754.1_5'UTR|MBNL1_ENST00000498502.1_5'UTR	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1						alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGTTCAGCTTTTTTTTTTT	0.371													ENSG00000152601																																					0																																										SO:0001623	5_prime_UTR_variant	0				Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.-85->T	3.37:g.152017908_152017908dupT			E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	R	INS	-	NULL	ENST00000463374.1	37	NULL	CCDS3165.1	3																																																																																				MBNL1	-	-		0.371	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	0	0		15	15		0.00		-	NM_021038		152017898	+1	3		31		tier1	no_errors	ENST00000461436	ensembl	human	putative	74_37	rna	8.82		INS	0.829:0.026	T	3	31
CCDC186	55088	genome.wustl.edu	37	10	115923008	115923008	+	Missense_Mutation	SNP	A	A	G			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr10:115923008A>G	ENST00000369287.3	-	2	286	c.20T>C	c.(19-21)aTa>aCa	p.I7T	C10orf118_ENST00000369286.1_Missense_Mutation_p.I7T|C10orf118_ENST00000369285.3_Missense_Mutation_p.I7T	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		7										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AGTAGAGGCTATGTGGTCTGT	0.368													ENSG00000165813																																					0													121.0	118.0	119.0					10																	115923008		2203	4299	6502	SO:0001583	missense	0			-																												ENST00000369287.3:c.20T>C	10.37:g.115923008A>G	ENSP00000358293:p.Ile7Thr		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.I7T	ENST00000369287.3	37	c.20	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	A	4.007	-0.001434	0.07819	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.33438	1.83;1.41;1.41	5.65	-5.05	0.02955	.	1.177150	0.05791	N	0.610316	T	0.19967	0.0480	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.35992	-0.9766	10	0.49607	T	0.09	.	1.2775	0.02033	0.1853:0.3381:0.2558:0.2209	.	7	Q7Z3E2	CJ118_HUMAN	T	7;113;7;7	ENSP00000358293:I7T;ENSP00000358292:I7T;ENSP00000358291:I7T	ENSP00000358291:I7T	I	-	2	0	C10orf118	115912998	0.010000	0.17322	0.017000	0.16124	0.050000	0.14768	0.426000	0.21363	-0.479000	0.06813	0.529000	0.55759	ATA	-	C10orf118	-	NULL		0.368	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	0	0		22	22		0.00		A			115923008	-1	11		8		tier1	no_errors	ENST00000369287	ensembl	human	known	74_37	missense	57.89		SNP	0.000	G	11	8
MDN1	23195	genome.wustl.edu	37	6	90468585	90468585	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:90468585delA	ENST00000369393.3	-	18	2670	c.2555delT	c.(2554-2556)ttgfs	p.L853fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.L853fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	853					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTTCAAGCAAACCACTCAG	0.473													ENSG00000112159																																					0													112.0	98.0	103.0					6																	90468585		2203	4300	6503	SO:0001589	frameshift_variant	0				AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2555delT	6.37:g.90468585delA	ENSP00000358400:p.Leu853fs		O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L852fs	ENST00000369393.3	37	c.2555	CCDS5024.1	6																																																																																				MDN1	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	0	0		47	47		0.00		A			90468585	-1	11		19		tier1	no_errors	ENST00000369393	ensembl	human	known	74_37	frame_shift_del	36.67		DEL	1.000	-	11	19
TMBIM1	64114	genome.wustl.edu	37	2	219142143	219142143	+	Missense_Mutation	SNP	C	C	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr2:219142143C>T	ENST00000444881.1	-	10	1310	c.585G>A	c.(583-585)atG>atA	p.M195I	TMBIM1_ENST00000396809.2_Missense_Mutation_p.M195I|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000445635.1_Missense_Mutation_p.M21I|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000258412.3_Missense_Mutation_p.M195I			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	195					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTGATGATCATTGCAATGA	0.507													ENSG00000135926																																					0													112.0	104.0	107.0					2																	219142143		2203	4300	6503	SO:0001583	missense	0			-	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.585G>A	2.37:g.219142143C>T	ENSP00000409738:p.Met195Ile		B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.M195I	ENST00000444881.1	37	c.585	CCDS2412.1	2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051556	0.55218	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000445635;ENST00000543441	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.85	4.85	0.62838	.	0.118551	0.85682	D	0.000000	T	0.35335	0.0928	L	0.35249	1.045	0.80722	D	1	B;B	0.20261	0.043;0.003	B;B	0.16722	0.016;0.007	T	0.08659	-1.0711	10	0.30854	T	0.27	-21.8922	18.1897	0.89803	0.0:1.0:0.0:0.0	.	133;195	B4DNZ1;Q969X1	.;TMBI1_HUMAN	I	195;195;195;21;133	ENSP00000258412:M195I;ENSP00000409738:M195I;ENSP00000380025:M195I;ENSP00000401491:M21I	ENSP00000258412:M195I	M	-	3	0	TMBIM1	218850387	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.388000	0.59633	2.529000	0.85273	0.655000	0.94253	ATG	-	TMBIM1	-	pfam_Bax_inhibitor_1-related		0.507	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	HGNC	protein_coding	OTTHUMT00000338559.1	0	0		36	36		0.00		C	NM_022152		219142143	-1	4		21		tier1	no_errors	ENST00000258412	ensembl	human	known	74_37	missense	16.00		SNP	1.000	T	4	21
OR14C36	127066	genome.wustl.edu	37	1	248512774	248512774	+	Missense_Mutation	SNP	C	C	A			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:248512774C>A	ENST00000317861.1	+	1	698	c.698C>A	c.(697-699)aCa>aAa	p.T233K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCAGACAGAACAAAGGCCTTT	0.527													ENSG00000177174																																					0													210.0	147.0	168.0					1																	248512774		2203	4300	6503	SO:0001583	missense	0			-	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.698C>A	1.37:g.248512774C>A	ENSP00000324534:p.Thr233Lys		Q6IEZ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T233K	ENST00000317861.1	37	c.698	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	C	9.324	1.058754	0.19987	.	.	ENSG00000177174	ENST00000317861	T	0.00051	8.81	3.91	-7.81	0.01210	GPCR, rhodopsin-like superfamily (1);	2.201550	0.02197	N	0.061882	T	0.00039	0.0001	N	0.00301	-1.68	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44937	-0.9295	10	0.27082	T	0.32	.	2.2848	0.04124	0.3805:0.3407:0.1052:0.1735	.	233	Q8NHC7	O14CZ_HUMAN	K	233	ENSP00000324534:T233K	ENSP00000324534:T233K	T	+	2	0	OR14C36	246579397	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-0.324000	0.07986	-2.702000	0.00398	0.395000	0.25975	ACA	-	OR14C36	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	0	0		21	21		0.00		C	NM_001001918		248512774	+1	10		22		tier1	no_errors	ENST00000317861	ensembl	human	known	74_37	missense	31.25		SNP	0.000	A	10	22
STIP1	10963	genome.wustl.edu	37	11	63965443	63965443	+	Silent	SNP	G	G	A			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:63965443G>A	ENST00000305218.4	+	8	1167	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	STIP1_ENST00000358794.5_Silent_p.Q387Q|STIP1_ENST00000538945.1_Silent_p.Q316Q	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	340					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAATGCCAGCAGGTGCGTA	0.373													ENSG00000168439																																					0													114.0	124.0	120.0					11																	63965443		2200	4297	6497	SO:0001819	synonymous_variant	0			-	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1020G>A	11.37:g.63965443G>A			B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q340	ENST00000305218.4	37	c.1020	CCDS8058.1	11																																																																																			-	STIP1	-	pfscan_TPR-contain_dom		0.373	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	0	0		50	50		0.00		G	NM_006819		63965443	+1	4		42		tier1	no_errors	ENST00000305218	ensembl	human	known	74_37	silent	8.70		SNP	0.997	A	4	42
EIF5	1983	genome.wustl.edu	37	14	103800843	103800844	+	5'UTR	INS	-	-	CTCGGA	rs536747465|rs112999017	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr14:103800843_103800844insCTCGGA	ENST00000216554.3	+	0	377_378				EIF5_ENST00000558506.1_5'Flank|EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_5'Flank|RP11-45P15.4_ENST00000563989.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			GCCTCCGCCTCCTCGGACTCGG	0.668													ENSG00000100664		1644	0.328275	0.2776	0.3473	5008	,	,		9772	0.3562		0.2883	False		,,,				2504	0.3957																0																																										SO:0001623	5_prime_UTR_variant	0				U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.-299->CTCGGA	14.37:g.103800844_103800849dupCTCGGA			Q53XB3|Q9H5N2|Q9UG48	R	INS	-	NULL	ENST00000216554.3	37	NULL	CCDS9980.1	14																																																																																				EIF5	-	-		0.668	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5	HGNC	protein_coding	OTTHUMT00000415329.2									-	NM_001969		103800844	+1					tier1	no_errors	ENST00000560200	ensembl	human	known	74_37	rna			INS	0.096:0.001	CTCGGA		
NDUFAF6	137682	genome.wustl.edu	37	8	96047806	96047807	+	Splice_Site	INS	-	-	AA	rs397749867|rs34960210	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr8:96047806_96047807insAA	ENST00000396124.4	+	3	443		c.e3+2		NDUFAF6_ENST00000396113.1_Splice_Site|NDUFAF6_ENST00000396111.2_Splice_Site|NDUFAF6_ENST00000542894.1_Splice_Site|NDUFAF6_ENST00000286687.4_Splice_Site	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6						biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										CTATGGAAGGTAAAAAAAAAAA	0.332													ENSG00000156170																																					0																																										SO:0001630	splice_region_variant	0				BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.420+2->AA	8.37:g.96047815_96047816dupAA			A8MT28|A8MWF0|B4DQ45|Q8N6U6	Splice_Site	INS	-	e3+2	ENST00000396124.4	37	c.420+2_420+1	CCDS6266.2	8																																																																																				NDUFAF6	-	-		0.332	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF6	HGNC	protein_coding	OTTHUMT00000316700.2	0	0		33	33		0.00		-	NM_152416	Intron	96047807	+1	5		42		tier1	no_errors	ENST00000396124	ensembl	human	known	74_37	splice_site_ins	10.64		INS	1.000:0.999	AA	5	42
CTNND1	1500	genome.wustl.edu	37	11	57575904	57575904	+	Missense_Mutation	SNP	C	C	G			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:57575904C>G	ENST00000399050.4	+	14	2670	c.2134C>G	c.(2134-2136)Ctt>Gtt	p.L712V	CTNND1_ENST00000358694.6_Missense_Mutation_p.L706V|CTNND1_ENST00000399039.4_Missense_Mutation_p.L712V|CTNND1_ENST00000524630.1_Missense_Mutation_p.L706V|CTNND1_ENST00000528232.1_Missense_Mutation_p.L611V|CTNND1_ENST00000426142.2_Missense_Mutation_p.L605V|CTNND1_ENST00000415361.2_Missense_Mutation_p.L611V|CTNND1_ENST00000360682.6_Missense_Mutation_p.L712V|CTNND1_ENST00000532844.1_Missense_Mutation_p.L658V|CTNND1_ENST00000529526.1_Missense_Mutation_p.L652V|CTNND1_ENST00000532463.1_Missense_Mutation_p.L605V|CTNND1_ENST00000428599.2_Missense_Mutation_p.L706V|CTNND1_ENST00000530748.1_Missense_Mutation_p.L658V|CTNND1_ENST00000361391.6_Missense_Mutation_p.L706V|CTNND1_ENST00000529986.1_Missense_Mutation_p.L605V|CTNND1_ENST00000528621.1_Missense_Mutation_p.L652V|CTNND1_ENST00000526772.1_Missense_Mutation_p.L383V|CTNND1_ENST00000361332.4_Missense_Mutation_p.L706V|CTNND1_ENST00000532787.1_Missense_Mutation_p.L605V|CTNND1_ENST00000530094.1_Missense_Mutation_p.L605V|CTNND1_ENST00000529873.1_Missense_Mutation_p.L652V|CTNND1_ENST00000533667.1_Missense_Mutation_p.L383V|CTNND1_ENST00000532245.1_Missense_Mutation_p.L605V|CTNND1_ENST00000527467.1_Missense_Mutation_p.L389V|CTNND1_ENST00000532649.1_Missense_Mutation_p.L652V|CTNND1_ENST00000361796.4_Missense_Mutation_p.L706V|CTNND1_ENST00000526357.1_Missense_Mutation_p.L652V|CTNND1_ENST00000526938.1_Missense_Mutation_p.L712V|CTNND1_ENST00000534579.1_Missense_Mutation_p.L652V|CTNND1_ENST00000531014.1_Missense_Mutation_p.L383V|CTNND1_ENST00000529919.1_Missense_Mutation_p.L712V|CTNND1_ENST00000525902.1_Missense_Mutation_p.L389V	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	712					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGAAGGCTCTTTCTGCCAT	0.468													ENSG00000198561																																					0													114.0	116.0	115.0					11																	57575904		2036	4198	6234	SO:0001583	missense	0			-	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2134C>G	11.37:g.57575904C>G	ENSP00000382004:p.Leu712Val		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L712V	ENST00000399050.4	37	c.2134	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980137	0.92982	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78941	0.4363	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;0.999;0.998;0.998;0.998;1.0;0.998;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.996;0.998;0.996;0.996;0.996;0.999;0.996;0.998	T	0.80630	-0.1297	10	0.87932	D	0	-2.0762	18.8697	0.92308	0.0:1.0:0.0:0.0	.	712;706;712;605;652;652;706;712;712	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	V	706;712;712;712;706;652;605;712;706;706;605;605;706;605;383;652;652;658;706;389;611;383;383;652;389;658;652;605;611;605;652;712	ENSP00000436543:L706V;ENSP00000434808:L712V;ENSP00000381996:L712V;ENSP00000353902:L712V;ENSP00000354907:L706V;ENSP00000436323:L652V;ENSP00000409930:L605V;ENSP00000382004:L712V;ENSP00000354785:L706V;ENSP00000354823:L706V;ENSP00000432075:L605V;ENSP00000437156:L605V;ENSP00000351527:L706V;ENSP00000434949:L605V;ENSP00000437051:L383V;ENSP00000435379:L652V;ENSP00000432243:L652V;ENSP00000436744:L658V;ENSP00000413586:L706V;ENSP00000434900:L389V;ENSP00000435266:L611V;ENSP00000432623:L383V;ENSP00000433158:L383V;ENSP00000435494:L652V;ENSP00000434672:L389V;ENSP00000433276:L658V;ENSP00000433334:L652V;ENSP00000437327:L605V;ENSP00000403518:L611V;ENSP00000434017:L605V;ENSP00000435789:L652V;ENSP00000432041:L712V	ENSP00000351527:L706V	L	+	1	0	CTNND1	57332480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.747000	0.68689	2.570000	0.86706	0.467000	0.42956	CTT	-	CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.468	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	0	0		79	79		0.00		C	NM_001331		57575904	+1	18		48		tier1	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	27.27		SNP	1.000	G	18	48
PRPF8	10594	genome.wustl.edu	37	17	1559969	1559969	+	Silent	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr17:1559969G>T	ENST00000572621.1	-	34	5857	c.5592C>A	c.(5590-5592)acC>acA	p.T1864T	PRPF8_ENST00000304992.6_Silent_p.T1864T|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1864	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGCCCTTCCTGGTGACAATGA	0.547													ENSG00000174231																																					0													61.0	50.0	54.0					17																	1559969		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5592C>A	17.37:g.1559969G>T			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snR-bd,pfam_PRO8NT,pfam_Prp8_U5-snR-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.T1864	ENST00000572621.1	37	c.5592	CCDS11010.1	17																																																																																			-	PRPF8	-	pfam_PRP8_domainIV		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	0	0		38	38		0.00		G			1559969	-1	4		24		tier1	no_errors	ENST00000304992	ensembl	human	known	74_37	silent	14.29		SNP	0.996	T	4	24
NEFM	4741	genome.wustl.edu	37	8	24775542	24775542	+	Missense_Mutation	SNP	C	C	T	rs196863	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr8:24775542C>T	ENST00000221166.5	+	3	2956	c.2174C>T	c.(2173-2175)cCa>cTa	p.P725L	NEFM_ENST00000437366.2_Missense_Mutation_p.P686L|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.P349L|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	725	Tail.		P -> Q (in dbSNP:rs196863).		axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		gaagagaaaccaaaggatgtg	0.473													ENSG00000104722																																					0			GRCh37	CM034442	NEFM	M	rs196863						60.0	57.0	58.0					8																	24775542		2190	4274	6464	SO:0001583	missense	0			-	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2174C>T	8.37:g.24775542C>T	ENSP00000221166:p.Pro725Leu		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin,prints_Keratin_I	p.P725L	ENST00000221166.5	37	c.2174	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843419	0.32606	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.95307	-2.02;-1.81;-3.67	4.08	3.11	0.35812	.	0.504572	0.16191	N	0.225367	D	0.91935	0.7446	L	0.58810	1.83	0.44221	D	0.997057	B	0.24186	0.099	B	0.18871	0.023	D	0.90887	0.4758	10	0.52906	T	0.07	.	12.2955	0.54844	0.0:0.6835:0.3165:0.0	.	725	P07197	NFM_HUMAN	L	725;686;349	ENSP00000221166:P725L;ENSP00000410137:P686L;ENSP00000412295:P349L	ENSP00000221166:P725L	P	+	2	0	NEFM	24831447	0.000000	0.05858	0.855000	0.33649	0.720000	0.41350	1.344000	0.33941	1.973000	0.57446	0.185000	0.17295	CCA	-	NEFM	-	NULL		0.473	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	0	0		32	32		0.00		C	NM_005382		24775542	+1	7		20		tier1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	25.93		SNP	0.379	T	7	20
ZNF284	342909	genome.wustl.edu	37	19	44590261	44590261	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:44590261G>T	ENST00000421176.3	+	5	846	c.630G>T	c.(628-630)aaG>aaT	p.K210N	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TGTGTAGTAAGGCATTTAGTC	0.413													ENSG00000186026																																					0													76.0	80.0	78.0					19																	44590261		2190	4299	6489	SO:0001583	missense	0			-	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.630G>T	19.37:g.44590261G>T	ENSP00000411032:p.Lys210Asn		Q86WM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K210N	ENST00000421176.3	37	c.630	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201873	0.58234	.	.	ENSG00000186026	ENST00000421176	T	0.07908	3.15	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	M	0.93507	3.425	0.26797	N	0.969283	D	0.89917	1.0	D	0.97110	1.0	T	0.09729	-1.0661	9	0.87932	D	0	.	6.8185	0.23845	0.1422:0.0:0.8578:0.0	.	210	Q2VY69	ZN284_HUMAN	N	210	ENSP00000411032:K210N	ENSP00000411032:K210N	K	+	3	2	ZNF284	49282101	0.100000	0.21855	0.038000	0.18304	0.518000	0.34316	0.333000	0.19768	1.430000	0.47334	0.462000	0.41574	AAG	-	ZNF284	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	HGNC	protein_coding	OTTHUMT00000460473.1	0	0		36	36		0.00		G	NM_001037813		44590261	+1	4		33		tier1	no_errors	ENST00000421176	ensembl	human	known	74_37	missense	10.81		SNP	0.888	T	4	33
PRRT1	80863	genome.wustl.edu	37	6	32118219	32118219	+	Missense_Mutation	SNP	C	C	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:32118219C>T	ENST00000211413.5	-	2	608	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	PRRT1_ENST00000375152.2_Missense_Mutation_p.G81S|PRRT1_ENST00000467780.1_5'Flank|PRRT1_ENST00000375150.2_Missense_Mutation_p.G81S	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	162					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCTACGTAGCCCCCCAGCGGC	0.741													ENSG00000204314																																					0													20.0	19.0	19.0					6																	32118219		1505	2700	4205	SO:0001583	missense	0			-	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.484G>A	6.37:g.32118219C>T	ENSP00000211413:p.Gly162Ser		A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.G162S	ENST00000211413.5	37	c.484	CCDS4739.1	6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722326	0.89298	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.94497	-3.44;-2.93;-2.93	3.82	3.82	0.43975	.	.	.	.	.	D	0.93239	0.7846	L	0.27053	0.805	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94082	0.7345	9	0.56958	D	0.05	.	13.2161	0.59861	0.0:1.0:0.0:0.0	.	162;81	Q99946;Q99946-2	PRRT1_HUMAN;.	S	162;81;81	ENSP00000211413:G162S;ENSP00000364292:G81S;ENSP00000364294:G81S	ENSP00000211413:G162S	G	-	1	0	PRRT1	32226197	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.476000	0.73587	1.691000	0.51100	0.491000	0.48974	GGC	-	PRRT1	-	NULL		0.741	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	0	0		29	29		0.00		C	NM_030651		32118219	-1	11		10		tier1	no_errors	ENST00000211413	ensembl	human	known	74_37	missense	52.38		SNP	1.000	T	11	10
CTNNA2	1496	genome.wustl.edu	37	2	80136835	80136835	+	Missense_Mutation	SNP	C	C	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr2:80136835C>T	ENST00000402739.4	+	6	973	c.968C>T	c.(967-969)aCg>aTg	p.T323M	CTNNA2_ENST00000540488.1_Missense_Mutation_p.T323M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T323M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T357M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T323M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.T323M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	323					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCCTCCTGCACGCGAGACGAC	0.652													ENSG00000066032																																					0													53.0	59.0	57.0					2																	80136835		2061	4209	6270	SO:0001583	missense	0			-		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.968C>T	2.37:g.80136835C>T	ENSP00000384638:p.Thr323Met		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T357M	ENST00000402739.4	37	c.1070		2	.	.	.	.	.	.	.	.	.	.	C	31	5.062224	0.93846	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.961;0.985;0.988	T	0.79564	-0.1751	10	0.87932	D	0	.	19.6081	0.95588	0.0:1.0:0.0:0.0	.	323;323;323	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	323;323;357;323;323;323	ENSP00000418191:T323M;ENSP00000419295:T323M;ENSP00000355398:T357M;ENSP00000384638:T323M;ENSP00000444675:T323M;ENSP00000441705:T323M	ENSP00000355398:T357M	T	+	2	0	CTNNA2	79990346	1.000000	0.71417	0.959000	0.39883	0.925000	0.55904	7.725000	0.84808	2.652000	0.90054	0.591000	0.81541	ACG	-	CTN2	-	pfam_Vinculin/catenin,prints_Alpha_catenin		0.652	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTN2	HGNC	protein_coding	OTTHUMT00000328511.4	0	0		24	24		0.00		C	NM_004389		80136835	+1	18		18		tier1	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	50.00		SNP	1.000	T	18	18
TBC1D15	64786	genome.wustl.edu	37	12	72287041	72287041	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr12:72287041G>T	ENST00000550746.1	+	6	658	c.594G>T	c.(592-594)caG>caT	p.Q198H	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000319106.8_Missense_Mutation_p.Q206H|TBC1D15_ENST00000485960.2_Missense_Mutation_p.Q198H	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	198					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATTGTCAGAATAAGAGTC	0.313													ENSG00000121749																																					0													81.0	81.0	81.0					12																	72287041		2202	4293	6495	SO:0001583	missense	0			-	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.594G>T	12.37:g.72287041G>T	ENSP00000448182:p.Gln198His		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q198H	ENST00000550746.1	37	c.594	CCDS31858.1	12	.	.	.	.	.	.	.	.	.	.	G	0.931	-0.712662	0.03206	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.5	1.23	0.21249	Domain of unknown function DUF3548 (1);	0.521170	0.21745	N	0.069766	T	0.10035	0.0246	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.002;0.004	T	0.35176	-0.9799	10	0.02654	T	1	-3.3722	8.2531	0.31739	0.201:0.0:0.6869:0.1121	.	206;198;198	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	H	99;198;99;206;198	ENSP00000449643:Q99H;ENSP00000448182:Q198H;ENSP00000418091:Q99H;ENSP00000318262:Q206H;ENSP00000420678:Q198H	ENSP00000318262:Q206H	Q	+	3	2	TBC1D15	70573308	0.996000	0.38824	0.997000	0.53966	0.879000	0.50718	0.206000	0.17375	0.006000	0.14734	-1.094000	0.02160	CAG	-	TBC1D15	-	pfam_DUF3548		0.313	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	TBC1D15	HGNC	protein_coding	OTTHUMT00000351266.2	0	0		30	30		0.00		G	NM_022771		72287041	+1	3		18		tier1	no_errors	ENST00000550746	ensembl	human	known	74_37	missense	14.29		SNP	1.000	T	3	18
AZIN2	113451	genome.wustl.edu	37	1	33585656	33585656	+	Missense_Mutation	SNP	G	G	A			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:33585656G>A	ENST00000294517.6	+	12	1843	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.R419Q|ADC_ENST00000398167.1_Missense_Mutation_p.R439Q|ADC_ENST00000373441.1_Missense_Mutation_p.R439Q	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		419					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GAAGCGCTGCGAAGGCAGCTG	0.642													ENSG00000142920																																					0													85.0	65.0	72.0					1																	33585656		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000294517.6:c.1256G>A	1.37:g.33585656G>A	ENSP00000294517:p.Arg419Gln		B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.R439Q	ENST00000294517.6	37	c.1316	CCDS375.1	1	.	.	.	.	.	.	.	.	.	.	g	0.234	-1.019055	0.02078	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.22	-1.24	0.09435	Alanine racemase/group IV decarboxylase, C-terminal (1);	0.625204	0.14706	N	0.303276	T	0.21962	0.0529	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.18741	0.03;0.018	B;B	0.08055	0.003;0.001	T	0.30446	-0.9978	10	0.02654	T	1	0.2269	9.6375	0.39819	0.4445:0.0:0.5555:0.0	.	439;419	Q96A70-2;Q96A70	.;ADC_HUMAN	Q	419;419;439;439	ENSP00000294517:R419Q;ENSP00000362542:R419Q;ENSP00000381233:R439Q;ENSP00000362540:R439Q	ENSP00000294517:R419Q	R	+	2	0	ADC	33358243	0.041000	0.20044	0.047000	0.18901	0.422000	0.31414	0.310000	0.19356	-0.164000	0.10927	0.556000	0.70494	CGA	-	ADC	-	superfamily_Ala_racemase/Decarboxylase_C		0.642	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	0	0		49	49		0.00		G			33585656	+1	17		21		tier1	no_errors	ENST00000373441	ensembl	human	known	74_37	missense	44.74		SNP	0.068	A	17	21
PCDHB7	56129	genome.wustl.edu	37	5	140553042	140553042	+	Missense_Mutation	SNP	G	G	A			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr5:140553042G>A	ENST00000231137.3	+	1	800	c.626G>A	c.(625-627)aGt>aAt	p.S209N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S209N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGAGTTCAGTTTAACCCTC	0.502													ENSG00000113212																																					1	Substitution - Missense(1)	ovary(1)											73.0	71.0	72.0					5																	140553042		2203	4300	6503	SO:0001583	missense	0			-	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.626G>A	5.37:g.140553042G>A	ENSP00000231137:p.Ser209Asn		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S209N	ENST00000231137.3	37	c.626	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316588	0.01331	.	.	ENSG00000113212	ENST00000231137	T	0.03065	4.06	4.61	0.952	0.19584	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03011	0.0089	N	0.26042	0.785	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.43327	-0.9398	9	0.42905	T	0.14	.	5.7995	0.18406	0.2369:0.2094:0.5536:0.0	.	209	Q9Y5E2	PCDB7_HUMAN	N	209	ENSP00000231137:S209N	ENSP00000231137:S209N	S	+	2	0	PCDHB7	140533226	0.000000	0.05858	0.976000	0.42696	0.030000	0.12068	-0.588000	0.05774	0.359000	0.24239	0.655000	0.94253	AGT	-	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.502	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	0	0		55	55		0.00		G	NM_018940		140553042	+1	6		61		tier1	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	8.96		SNP	0.018	A	6	61
YAP1	10413	genome.wustl.edu	37	11	101985018	101985018	+	Silent	SNP	C	C	G	rs143682472	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:101985018C>G	ENST00000282441.5	+	2	853	c.465C>G	c.(463-465)ccC>ccG	p.P155P	YAP1_ENST00000537274.1_Silent_p.P155P|YAP1_ENST00000524575.1_5'UTR|YAP1_ENST00000531439.1_Silent_p.P155P|YAP1_ENST00000526343.1_Silent_p.P155P|YAP1_ENST00000345877.2_Silent_p.P155P	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	155					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CAGCTACACCCACAGCTCAGC	0.522													ENSG00000137693	C|||	7	0.00139776	0.0	0.0014	5008	,	,		13365	0.0		0.001	False		,,,				2504	0.0051				Colon(50;247 1103 7861 28956)												0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	99.0	97.0	97.0		465,465,,465	-6.2	0.0	11	dbSNP_134	97	6,8592	5.0+/-18.6	0,6,4293	no	coding-synonymous,coding-synonymous,utr-5,coding-synonymous	YAP1	NM_001130145.2,NM_001195044.1,NM_001195045.1,NM_006106.4	,,,	0,7,6495	GG,GC,CC		0.0698,0.0227,0.0538	,,,	155/505,155/489,,155/451	101985018	7,12997	2203	4299	6502	SO:0001819	synonymous_variant	0			-		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.465C>G	11.37:g.101985018C>G			B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P155	ENST00000282441.5	37	c.465	CCDS44716.1	11																																																																																			rs143682472	YAP1	-	NULL		0.522	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	0	0		58	58		0.00		C	NM_006106		101985018	+1	5		52		tier1	no_errors	ENST00000282441	ensembl	human	known	74_37	silent	8.77		SNP	0.000	G	5	52
BTC	685	genome.wustl.edu	37	4	75673316	75673317	+	In_Frame_Ins	INS	-	-	TTCTTCTTCTTCTTCTTC			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr4:75673316_75673317insTTCTTCTTCTTCTTCTTC	ENST00000395743.3	-	5	831_832	c.471_472insGAAGAAGAAGAAGAAGAA	c.(469-474)gaaatg>gaaGAAGAAGAAGAAGAAGAAatg	p.156_157insEEEEEE		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	156					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGAGTTTCCATTTCTTCTTCTT	0.342													ENSG00000174808																																					0																																										SO:0001652	inframe_insertion	0				S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.471_472insGAAGAAGAAGAAGAAGAA	4.37:g.75673316_75673317insTTCTTCTTCTTCTTCTTC	ENSP00000379092:p.Glu156_Glu157insGluGluGluGluGluGlu		Q96F48	In_Frame_Ins	INS	pfscan_EG-like_dom	p.157in_frame_insEEEEEE	ENST00000395743.3	37	c.472_471	CCDS3566.1	4																																																																																				BTC	-	NULL		0.342	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTC	HGNC	protein_coding	OTTHUMT00000252413.1									-			75673317	-1					tier1	no_errors	ENST00000395743	ensembl	human	known	74_37	in_frame_ins			INS	1.000:1.000	TTCTTCTTCTTCTTCTTC		
PDHA2	5161	genome.wustl.edu	37	4	96761780	96761780	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr4:96761780G>T	ENST00000295266.4	+	1	542	c.479G>T	c.(478-480)gGg>gTg	p.G160V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	160					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AACTTCTATGGGGGCAATGGC	0.498													ENSG00000163114																																					0													77.0	77.0	77.0					4																	96761780		2203	4300	6503	SO:0001583	missense	0			-		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.479G>T	4.37:g.96761780G>T	ENSP00000295266:p.Gly160Val		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.G160V	ENST00000295266.4	37	c.479	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348501	0.61183	.	.	ENSG00000163114	ENST00000295266	D	0.97303	-4.33	4.77	4.77	0.60923	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99293	1.0899	10	0.87932	D	0	-15.9841	15.6906	0.77450	0.0:0.0:1.0:0.0	.	160	P29803	ODPAT_HUMAN	V	160	ENSP00000295266:G160V	ENSP00000295266:G160V	G	+	2	0	PDHA2	96980803	1.000000	0.71417	0.997000	0.53966	0.332000	0.28634	8.854000	0.92228	2.646000	0.89796	0.467000	0.42956	GGG	-	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.498	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	0	0		51	51		0.00		G			96761780	+1	14		37		tier1	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	27.45		SNP	1.000	T	14	37
SLC31A2	1318	genome.wustl.edu	37	9	115920344	115920344	+	Intron	SNP	A	A	G			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr9:115920344A>G	ENST00000259392.3	+	2	206					NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2						cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	taaagcccagagacaggaaga	0.537													ENSG00000136867																																					0																																										SO:0001627	intron_variant	0			-		CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"""Solute carriers"""	11017	protein-coding gene	gene with protein product	"""copper transporter 2"""	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.73+271A>G	9.37:g.115920344A>G				Missense_Mutation	SNP	NULL	p.R32G	ENST00000259392.3	37	c.94	CCDS6788.1	9																																																																																			-	SLC31A2	-	NULL		0.537	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	HGNC	protein_coding	OTTHUMT00000055509.2	0	0		23	23		0.00		A	NM_001860		115920344	+1	5		16		tier1	no_errors	ENST00000374220	ensembl	human	known	74_37	missense	23.81		SNP	0.028	G	5	16
PRR36	80164	genome.wustl.edu	37	19	7935863	7935863	+	Missense_Mutation	SNP	G	G	T	rs5027409		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr19:7935863G>T	ENST00000539422.1	-	5	2429	c.2267C>A	c.(2266-2268)cCt>cAt	p.P756H	CTD-3193O13.9_ENST00000593356.1_Intron|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					GTTCTCCAGAGGGGGTGTGGT	0.622													ENSG00000183248																																					0																																										SO:0001583	missense	0			-																												ENST00000539422.1:c.2267C>A	19.37:g.7935863G>T	ENSP00000438970:p.Pro756His			Missense_Mutation	SNP	NULL	p.P756H	ENST00000539422.1	37	c.2267		19	.	.	.	.	.	.	.	.	.	.	G	5.221	0.226334	0.09916	.	.	ENSG00000183248	ENST00000539422	.	.	.	2.35	-0.76	0.11041	.	.	.	.	.	T	0.23532	0.0569	N	0.11560	0.145	0.58432	P	6.999999999979245E-6	.	.	.	.	.	.	T	0.32268	-0.9913	5	0.56958	D	0.05	.	5.5853	0.17272	0.4446:0.0:0.5554:0.0	rs5027409	.	.	.	H	756	.	ENSP00000438970:P756H	P	-	2	0	AC010336.1	7841863	0.804000	0.28969	0.003000	0.11579	0.318000	0.28184	0.000000	0.12993	0.137000	0.18759	0.074000	0.15403	CCT	rs5027409	CTD-3193O13.9	-	NULL		0.622	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Clone_based_vega_gene	protein_coding		0	0		28	28		0.00		G			7935863	-1	6		37		tier1	no_errors	ENST00000539422	ensembl	human	known	74_37	missense	13.95		SNP	0.136	T	6	37
GFRAL	389400	genome.wustl.edu	37	6	55263988	55263988	+	Silent	SNP	C	C	A	rs146209371		TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr6:55263988C>A	ENST00000340465.2	+	7	1049	c.963C>A	c.(961-963)acC>acA	p.T321T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	321					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTATCCAACCCTGTCTAATG	0.299													ENSG00000187871																																					0													36.0	36.0	36.0					6																	55263988		2203	4290	6493	SO:0001819	synonymous_variant	0			-	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.963C>A	6.37:g.55263988C>A			Q5VTF6	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.T321	ENST00000340465.2	37	c.963	CCDS4957.1	6																																																																																			-	GFRAL	-	NULL		0.299	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRAL	HGNC	protein_coding	OTTHUMT00000040995.2	0	0		45	45		0.00		C	NM_207410		55263988	+1	5		51		tier1	no_errors	ENST00000340465	ensembl	human	known	74_37	silent	8.93		SNP	0.000	A	5	51
HS3ST6	64711	genome.wustl.edu	37	16	1962101	1962101	+	Missense_Mutation	SNP	G	G	T			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr16:1962101G>T	ENST00000293937.3	-	2	518	c.519C>A	c.(517-519)gaC>gaA	p.D173E	HS3ST6_ENST00000454677.2_Missense_Mutation_p.D190E|HS3ST6_ENST00000443547.1_Missense_Mutation_p.D142E			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	173					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TCAGCTTCGTGTCCGGGGACA	0.682													ENSG00000162040																																					0													20.0	23.0	22.0					16																	1962101		2196	4299	6495	SO:0001583	missense	0			-			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.519C>A	16.37:g.1962101G>T	ENSP00000293937:p.Asp173Glu		Q96RX7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.D173E	ENST00000293937.3	37	c.519		16	.	.	.	.	.	.	.	.	.	.	g	9.903	1.207460	0.22205	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.56444	0.46;0.46	4.83	3.85	0.44370	Sulfotransferase domain (1);	0.401910	0.29126	N	0.013071	T	0.41673	0.1169	L	0.39514	1.22	0.29619	N	0.846341	B	0.02656	0.0	B	0.04013	0.001	T	0.40515	-0.9559	10	0.51188	T	0.08	.	9.1504	0.36959	0.1714:0.0:0.8286:0.0	.	173	Q96QI5	HS3S6_HUMAN	E	173;142;212	ENSP00000293937:D173E;ENSP00000390354:D142E	ENSP00000293937:D173E	D	-	3	2	HS3ST6	1902102	1.000000	0.71417	0.871000	0.34182	0.965000	0.64279	1.593000	0.36686	1.006000	0.39211	0.500000	0.49745	GAC	-	HS3ST6	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.682	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	HS3ST6	HGNC	protein_coding		0	0		95	95		0.00		G	NM_001009606		1962101	-1	51		66		tier1	no_errors	ENST00000293937	ensembl	human	known	74_37	missense	43.59		SNP	1.000	T	51	66
ELF3	1999	genome.wustl.edu	37	1	201981253	201981253	+	Missense_Mutation	SNP	G	G	A			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:201981253G>A	ENST00000359651.3	+	2	3524	c.332G>A	c.(331-333)cGt>cAt	p.R111H	ELF3_ENST00000367284.5_Missense_Mutation_p.R111H|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.R111H|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GAGGAGCTGCGTCTGGTCTTT	0.592													ENSG00000163435																																					0													66.0	59.0	61.0					1																	201981253		2203	4300	6503	SO:0001583	missense	0			-	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.332G>A	1.37:g.201981253G>A	ENSP00000352673:p.Arg111His			Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R111H	ENST00000359651.3	37	c.332	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483791	0.84854	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.56	5.56	0.83823	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.463335	0.21665	N	0.070953	T	0.43545	0.1252	L	0.57536	1.79	0.38514	D	0.948554	D	0.67145	0.996	P	0.55713	0.782	T	0.22208	-1.0223	10	0.20519	T	0.43	.	15.0638	0.71977	0.0:0.1415:0.8585:0.0	.	111	P78545	ELF3_HUMAN	H	111;111;111;111;109	ENSP00000352673:R111H;ENSP00000356253:R111H;ENSP00000356252:R111H;ENSP00000405162:R109H	ENSP00000311348:R111H	R	+	2	0	ELF3	200247876	1.000000	0.71417	0.966000	0.40874	0.975000	0.68041	3.968000	0.56809	2.608000	0.88229	0.591000	0.81541	CGT	-	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.592	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	0	0		39	39		0.00		G	NM_004433		201981253	+1	25		38		tier1	no_errors	ENST00000359651	ensembl	human	known	74_37	missense	39.68		SNP	0.951	A	25	38
ST5	6764	genome.wustl.edu	37	11	8715262	8715263	+	3'UTR	INS	-	-	CAGG	rs55680964|rs397775044|rs3833781	byFrequency	TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr11:8715262_8715263insCAGG	ENST00000534127.1	-	0	4179_4180				RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000313726.6_3'UTR|ST5_ENST00000357665.1_3'UTR|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_3'UTR|ST5_ENST00000530991.1_3'UTR	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5						positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGCGGGGACCTCAGGCAGGCAG	0.535													ENSG00000254665		1715	0.342452	0.3147	0.3429	5008	,	,		18392	0.3006		0.4066	False		,,,				2504	0.3569																0																																										SO:0001624	3_prime_UTR_variant	0				U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.*381->CCTG	11.37:g.8715267_8715270dupCAGG			B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	R	INS	-	NULL	ENST00000534127.1	37	NULL	CCDS7791.1	11																																																																																				RP11-152H18.3	-	-		0.535	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000254665	Clone_based_vega_gene	protein_coding	OTTHUMT00000386518.1	0	0		10	10		0.00		-	NM_005418		8715263	+1	6		9		tier1	no_errors	ENST00000529883	ensembl	human	known	74_37	rna	40.00		INS	0.007:0.136	CAGG	6	9
PADI1	29943	genome.wustl.edu	37	1	17555167	17555167	+	Missense_Mutation	SNP	C	C	A			TCGA-IF-A4AK-01A-21D-A24N-09	TCGA-IF-A4AK-11A-11D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	c8268090-df42-4320-b19f-48c377fac5d9	3a65b90b-a76d-441f-bf6e-bf3198d92685	g.chr1:17555167C>A	ENST00000375471.4	+	7	792	c.700C>A	c.(700-702)Ctg>Atg	p.L234M		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	234					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCCCCAGTGTCTGTCCTATGA	0.577													ENSG00000142623																									Esophageal Squamous(80;414 1257 4580 27746 50832)												0													148.0	161.0	157.0					1																	17555167		2203	4300	6503	SO:0001583	missense	0			-	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.700C>A	1.37:g.17555167C>A	ENSP00000364620:p.Leu234Met		A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L234M	ENST00000375471.4	37	c.700	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	C	8.059	0.767593	0.15983	.	.	ENSG00000142623	ENST00000375471	T	0.19669	2.13	4.83	-1.34	0.09143	Protein-arginine deiminase (PAD), central domain (2);	0.293191	0.28600	N	0.014769	T	0.18002	0.0432	M	0.69823	2.125	0.09310	N	1	B	0.25772	0.134	B	0.30029	0.11	T	0.15065	-1.0450	10	0.33141	T	0.24	-2.6385	2.8078	0.05432	0.1306:0.4898:0.1214:0.2582	.	234	Q9ULC6	PADI1_HUMAN	M	234	ENSP00000364620:L234M	ENSP00000364620:L234M	L	+	1	2	PADI1	17427754	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.683000	0.25349	0.082000	0.17018	-0.224000	0.12420	CTG	-	PADI1	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.577	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	0	0		74	74		0.00		C	NM_013358		17555167	+1	37		10		tier1	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	78.72		SNP	0.008	A	37	10
